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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: 1-16977172-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16977172&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16977172,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002403.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "NM_002403.4",
"protein_id": "NP_002394.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375535.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002403.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000375535.4",
"protein_id": "ENSP00000364685.3",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002403.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375535.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930335.1",
"protein_id": "ENSP00000600394.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 213,
"cds_start": 64,
"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": "ENST00000930335.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Asp43Asn",
"transcript": "ENST00000930331.1",
"protein_id": "ENSP00000600390.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 204,
"cds_start": 127,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930331.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930334.1",
"protein_id": "ENSP00000600393.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 199,
"cds_start": 64,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930334.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "NM_017459.3",
"protein_id": "NP_059453.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017459.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000884385.1",
"protein_id": "ENSP00000554444.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884385.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000884388.1",
"protein_id": "ENSP00000554447.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884388.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000884389.1",
"protein_id": "ENSP00000554448.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884389.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930328.1",
"protein_id": "ENSP00000600387.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930328.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930332.1",
"protein_id": "ENSP00000600391.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930332.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930339.1",
"protein_id": "ENSP00000600398.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930339.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930340.1",
"protein_id": "ENSP00000600399.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930340.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930341.1",
"protein_id": "ENSP00000600400.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 183,
"cds_start": 64,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930341.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Asp21Asn",
"transcript": "NM_001135247.2",
"protein_id": "NP_001128719.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 182,
"cds_start": 61,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135247.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Asp21Asn",
"transcript": "NM_001135248.2",
"protein_id": "NP_001128720.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 182,
"cds_start": 61,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135248.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Asp21Asn",
"transcript": "ENST00000375534.7",
"protein_id": "ENSP00000364684.3",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 182,
"cds_start": 61,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375534.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000954861.1",
"protein_id": "ENSP00000624920.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 181,
"cds_start": 64,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954861.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930333.1",
"protein_id": "ENSP00000600392.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 170,
"cds_start": 64,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930333.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000930338.1",
"protein_id": "ENSP00000600397.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 168,
"cds_start": 64,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930338.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn",
"transcript": "ENST00000884387.1",
"protein_id": "ENSP00000554446.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 154,
"cds_start": 64,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884387.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP2",
"gene_hgnc_id": 7033,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Asp21Asn",
"transcript": "ENST00000930329.1",
"protein_id": "ENSP00000600388.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 153,
"cds_start": 61,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930329.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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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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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33352839946746826,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.903,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002403.4",
"gene_symbol": "MFAP2",
"hgnc_id": 7033,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.64G>A",
"hgvs_p": "p.Asp22Asn"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000654887.2",
"gene_symbol": "ENSG00000286898",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.282-497C>T",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_947003.3",
"gene_symbol": "LOC105376806",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.703-497C>T",
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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
}