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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: 7-114629915-GCAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=114629915&ref=GCAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 114629915,
"ref": "GCAA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_148898.4",
"consequences": [
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.522_524delACA",
"hgvs_p": "p.Gln175del",
"transcript": "NM_014491.4",
"protein_id": "NP_055306.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 715,
"cds_start": 522,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350908.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014491.4"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.522_524delACA",
"hgvs_p": "p.Gln175del",
"transcript": "ENST00000350908.9",
"protein_id": "ENSP00000265436.7",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 715,
"cds_start": 522,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350908.9"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.597_599delACA",
"hgvs_p": "p.Gln200del",
"transcript": "ENST00000408937.7",
"protein_id": "ENSP00000386200.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 740,
"cds_start": 597,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408937.7"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.594_596delACA",
"hgvs_p": "p.Gln199del",
"transcript": "ENST00000390668.3",
"protein_id": "ENSP00000375084.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 456,
"cds_start": 594,
"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": "ENST00000390668.3"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.522_524delACA",
"hgvs_p": "p.Gln175del",
"transcript": "ENST00000360232.8",
"protein_id": "ENSP00000353367.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 432,
"cds_start": 522,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360232.8"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.522_524delACA",
"hgvs_p": "p.Gln175del",
"transcript": "ENST00000378237.7",
"protein_id": "ENSP00000367482.3",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 365,
"cds_start": 522,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378237.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*316_*318delACA",
"hgvs_p": null,
"transcript": "ENST00000393489.8",
"protein_id": "ENSP00000377129.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000393489.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*709_*711delACA",
"hgvs_p": null,
"transcript": "ENST00000440349.5",
"protein_id": "ENSP00000395552.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000440349.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*316_*318delACA",
"hgvs_p": null,
"transcript": "ENST00000393489.8",
"protein_id": "ENSP00000377129.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000393489.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*709_*711delACA",
"hgvs_p": null,
"transcript": "ENST00000440349.5",
"protein_id": "ENSP00000395552.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000440349.5"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.648_650delACA",
"hgvs_p": "p.Gln217del",
"transcript": "ENST00000703616.1",
"protein_id": "ENSP00000515400.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 757,
"cds_start": 648,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703616.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.615_617delACA",
"hgvs_p": "p.Gln206del",
"transcript": "ENST00000960356.1",
"protein_id": "ENSP00000630415.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 746,
"cds_start": 615,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960356.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.597_599delACA",
"hgvs_p": "p.Gln200del",
"transcript": "NM_148898.4",
"protein_id": "NP_683696.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 740,
"cds_start": 597,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148898.4"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.597_599delACA",
"hgvs_p": "p.Gln200del",
"transcript": "ENST00000901761.1",
"protein_id": "ENSP00000571820.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 740,
"cds_start": 597,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901761.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.597_599delACA",
"hgvs_p": "p.Gln200del",
"transcript": "ENST00000901767.1",
"protein_id": "ENSP00000571826.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 739,
"cds_start": 597,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901767.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.597_599delACA",
"hgvs_p": "p.Gln200del",
"transcript": "ENST00000901768.1",
"protein_id": "ENSP00000571827.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 739,
"cds_start": 597,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901768.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.591_593delACA",
"hgvs_p": "p.Gln198del",
"transcript": "ENST00000960357.1",
"protein_id": "ENSP00000630416.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 737,
"cds_start": 591,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960357.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.573_575delACA",
"hgvs_p": "p.Gln192del",
"transcript": "NM_148900.4",
"protein_id": "NP_683698.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 732,
"cds_start": 573,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148900.4"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.573_575delACA",
"hgvs_p": "p.Gln192del",
"transcript": "ENST00000403559.9",
"protein_id": "ENSP00000385069.4",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 732,
"cds_start": 573,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403559.9"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.573_575delACA",
"hgvs_p": "p.Gln192del",
"transcript": "ENST00000703613.1",
"protein_id": "ENSP00000515397.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 732,
"cds_start": 573,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703613.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.573_575delACA",
"hgvs_p": "p.Gln192del",
"transcript": "ENST00000901759.1",
"protein_id": "ENSP00000571818.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 732,
"cds_start": 573,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901759.1"
},
{
"aa_ref": "QQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.573_575delACA",
"hgvs_p": "p.Gln192del",
"transcript": "ENST00000901762.1",
"protein_id": "ENSP00000571821.1",
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{
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{
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],
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{
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"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
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},
{
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"upstream_gene_variant"
],
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"intron_rank": null,
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"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
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"transcript": "ENST00000634372.1",
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"transcript_support_level": 5,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634372.1"
}
],
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"dbsnp": "rs398124272",
"frequency_reference_population": 0.0018059255,
"hom_count_reference_population": 26,
"allele_count_reference_population": 2903,
"gnomad_exomes_af": 0.00173522,
"gnomad_genomes_af": 0.00249859,
"gnomad_exomes_ac": 2531,
"gnomad_genomes_ac": 372,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": 6.163,
"phylop100way_prediction": "Uncertain_significance",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_148898.4",
"gene_symbol": "FOXP2",
"hgnc_id": 13875,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.597_599delACA",
"hgvs_p": "p.Gln200del"
}
],
"clinvar_disease": "Childhood apraxia of speech,FOXP2-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|Childhood apraxia of speech|not provided|Inborn genetic diseases|FOXP2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}