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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: 20-35542591-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35542591&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35542591,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198398.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "NM_015966.3",
"protein_id": "NP_057050.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 383,
"cds_start": 238,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348547.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015966.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000348547.7",
"protein_id": "ENSP00000341358.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 383,
"cds_start": 238,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015966.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348547.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "n.267C>T",
"hgvs_p": null,
"transcript": "ENST00000447986.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000447986.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955795.1",
"protein_id": "ENSP00000625854.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 423,
"cds_start": 238,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955795.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955798.1",
"protein_id": "ENSP00000625857.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 403,
"cds_start": 238,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955798.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000931305.1",
"protein_id": "ENSP00000601364.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 401,
"cds_start": 238,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931305.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955794.1",
"protein_id": "ENSP00000625853.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 400,
"cds_start": 238,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955794.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955797.1",
"protein_id": "ENSP00000625856.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 398,
"cds_start": 238,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955797.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Pro78Ser",
"transcript": "ENST00000416206.5",
"protein_id": "ENSP00000399124.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 396,
"cds_start": 232,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416206.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886988.1",
"protein_id": "ENSP00000557047.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 393,
"cds_start": 238,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886988.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886990.1",
"protein_id": "ENSP00000557049.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 391,
"cds_start": 238,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886990.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886989.1",
"protein_id": "ENSP00000557048.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 389,
"cds_start": 238,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886989.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "NM_198398.2",
"protein_id": "NP_938408.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 388,
"cds_start": 238,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198398.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000357394.8",
"protein_id": "ENSP00000349970.4",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 388,
"cds_start": 238,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357394.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000931304.1",
"protein_id": "ENSP00000601363.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 382,
"cds_start": 238,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931304.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886987.1",
"protein_id": "ENSP00000557046.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 381,
"cds_start": 238,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886987.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886985.1",
"protein_id": "ENSP00000557044.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 238,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886985.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955799.1",
"protein_id": "ENSP00000625858.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 375,
"cds_start": 238,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955799.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955793.1",
"protein_id": "ENSP00000625852.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 238,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955793.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000955796.1",
"protein_id": "ENSP00000625855.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 238,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955796.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886986.1",
"protein_id": "ENSP00000557045.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 371,
"cds_start": 238,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886986.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERGIC3",
"gene_hgnc_id": 15927,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"transcript": "ENST00000886984.1",
"protein_id": "ENSP00000557043.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 340,
"cds_start": 238,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886984.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
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{
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{
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{
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{
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{
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],
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{
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],
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"biotype": "pseudogene",
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{
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],
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"gene_symbol": "ERGIC3",
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],
"gene_symbol": "ERGIC3",
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"dbsnp": "rs775455776",
"frequency_reference_population": 0.0000030982696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 6.84129e-7,
"gnomad_genomes_af": 0.0000262999,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.738733172416687,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.997,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198398.2",
"gene_symbol": "ERGIC3",
"hgnc_id": 15927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Pro80Ser"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}