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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: 4-79983915-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=79983915&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 79983915,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001145794.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "NM_058172.6",
"protein_id": "NP_477520.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 488,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403729.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058172.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "ENST00000403729.7",
"protein_id": "ENSP00000385575.2",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 488,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058172.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403729.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "ENST00000307333.7",
"protein_id": "ENSP00000306185.6",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 489,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307333.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "ENST00000404191.5",
"protein_id": "ENSP00000384028.1",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 411,
"cds_start": 911,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404191.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Tyr278Cys",
"transcript": "ENST00000346652.10",
"protein_id": "ENSP00000314883.6",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 386,
"cds_start": 833,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346652.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "ENST00000680913.1",
"protein_id": "ENSP00000505640.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 505,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680913.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Tyr389Cys",
"transcript": "ENST00000958991.1",
"protein_id": "ENSP00000629050.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 496,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958991.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "NM_001145794.2",
"protein_id": "NP_001139266.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 489,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145794.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "ENST00000681115.1",
"protein_id": "ENSP00000505618.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 488,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681115.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys",
"transcript": "ENST00000958987.1",
"protein_id": "ENSP00000629046.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 488,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958987.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Tyr380Cys",
"transcript": "ENST00000958986.1",
"protein_id": "ENSP00000629045.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 487,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958986.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Tyr380Cys",
"transcript": "ENST00000958990.1",
"protein_id": "ENSP00000629049.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 487,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958990.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Tyr373Cys",
"transcript": "ENST00000958993.1",
"protein_id": "ENSP00000629052.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 480,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958993.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1070A>G",
"hgvs_p": "p.Tyr357Cys",
"transcript": "ENST00000958988.1",
"protein_id": "ENSP00000629047.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 464,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958988.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.Tyr349Cys",
"transcript": "ENST00000875745.1",
"protein_id": "ENSP00000545804.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 456,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875745.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Tyr348Cys",
"transcript": "ENST00000958989.1",
"protein_id": "ENSP00000629048.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 455,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958989.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "NM_001286780.2",
"protein_id": "NP_001273709.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 411,
"cds_start": 911,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286780.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "NM_001286781.2",
"protein_id": "NP_001273710.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 411,
"cds_start": 911,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286781.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "ENST00000681710.1",
"protein_id": "ENSP00000505865.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 411,
"cds_start": 911,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1086+904A>G",
"hgvs_p": null,
"transcript": "ENST00000958992.1",
"protein_id": "ENSP00000629051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "c.1042-5741A>G",
"hgvs_p": null,
"transcript": "ENST00000875744.1",
"protein_id": "ENSP00000545803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "n.*292A>G",
"hgvs_p": null,
"transcript": "ENST00000449651.5",
"protein_id": "ENSP00000413700.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000449651.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "n.911A>G",
"hgvs_p": null,
"transcript": "ENST00000679571.1",
"protein_id": "ENSP00000506307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"hgvs_c": "n.*292A>G",
"hgvs_p": null,
"transcript": "ENST00000449651.5",
"protein_id": "ENSP00000413700.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000449651.5"
}
],
"gene_symbol": "ANTXR2",
"gene_hgnc_id": 21732,
"dbsnp": "rs137852901",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8027350902557373,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9825,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145794.2",
"gene_symbol": "ANTXR2",
"hgnc_id": 21732,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Tyr381Cys"
}
],
"clinvar_disease": "Hyaline fibromatosis syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hyaline fibromatosis syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}