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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: 9-35685655-CTCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35685655&ref=CTCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35685655,
"ref": "CTCA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_003289.4",
"consequences": [
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "NM_003289.4",
"protein_id": "NP_003280.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645482.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003289.4"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000645482.3",
"protein_id": "ENSP00000496494.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003289.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645482.3"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000378292.9",
"protein_id": "ENSP00000367542.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378292.9"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000951580.1",
"protein_id": "ENSP00000621639.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 289,
"cds_start": 363,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951580.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "NM_001301226.2",
"protein_id": "NP_001288155.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301226.2"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "NM_001301227.2",
"protein_id": "NP_001288156.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301227.2"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "NM_213674.1",
"protein_id": "NP_998839.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213674.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000329305.6",
"protein_id": "ENSP00000367541.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329305.6"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000647435.1",
"protein_id": "ENSP00000495440.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 284,
"cds_start": 363,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647435.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000951581.1",
"protein_id": "ENSP00000621640.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 282,
"cds_start": 363,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951581.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000951585.1",
"protein_id": "ENSP00000621644.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 264,
"cds_start": 363,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951585.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000951582.1",
"protein_id": "ENSP00000621641.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 263,
"cds_start": 363,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951582.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.240_242delTGA",
"hgvs_p": "p.Asp80del",
"transcript": "ENST00000951578.1",
"protein_id": "ENSP00000621637.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 243,
"cds_start": 240,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951578.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.237_239delTGA",
"hgvs_p": "p.Asp79del",
"transcript": "ENST00000951577.1",
"protein_id": "ENSP00000621636.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 242,
"cds_start": 237,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951577.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.237_239delTGA",
"hgvs_p": "p.Asp79del",
"transcript": "ENST00000951584.1",
"protein_id": "ENSP00000621643.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 242,
"cds_start": 237,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951584.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "ENST00000951583.1",
"protein_id": "ENSP00000621642.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 228,
"cds_start": 363,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951583.1"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "XM_017015088.3",
"protein_id": "XP_016870577.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 303,
"cds_start": 363,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015088.3"
},
{
"aa_ref": "DE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del",
"transcript": "XM_047423827.1",
"protein_id": "XP_047279783.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 213,
"cds_start": 363,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423827.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.190-174_190-172delTGA",
"hgvs_p": null,
"transcript": "ENST00000951579.1",
"protein_id": "ENSP00000621638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.446_448delTGA",
"hgvs_p": null,
"transcript": "ENST00000471212.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000471212.5"
},
{
"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": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.249_251delTGA",
"hgvs_p": null,
"transcript": "ENST00000604975.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000604975.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.198_200delTGA",
"hgvs_p": null,
"transcript": "ENST00000643485.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000643485.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.-192_-190delTGA",
"hgvs_p": null,
"transcript": "ENST00000607559.1",
"protein_id": "ENSP00000475952.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607559.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.-115_-113delTGA",
"hgvs_p": null,
"transcript": "ENST00000486018.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000486018.1"
}
],
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"dbsnp": "rs1554658995",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP5_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003289.4",
"gene_symbol": "TPM2",
"hgnc_id": 12011,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.363_365delTGA",
"hgvs_p": "p.Asp121del"
}
],
"clinvar_disease": " distal, type 1A,Arthrogryposis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Arthrogryposis, distal, type 1A",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}