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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: 17-1769884-GGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1769884&ref=GGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1769884,
"ref": "GGT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_002615.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "NM_002615.7",
"protein_id": "NP_002606.3",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": "ENST00000254722.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002615.7"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000254722.9",
"protein_id": "ENSP00000254722.4",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": "NM_002615.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254722.9"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869424.1",
"protein_id": "ENSP00000539483.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 427,
"cds_start": 119,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869424.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "NM_001329903.2",
"protein_id": "NP_001316832.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329903.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869426.1",
"protein_id": "ENSP00000539485.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869426.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869427.1",
"protein_id": "ENSP00000539486.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869427.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869428.1",
"protein_id": "ENSP00000539487.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869428.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869429.1",
"protein_id": "ENSP00000539488.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869429.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869430.1",
"protein_id": "ENSP00000539489.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869430.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869432.1",
"protein_id": "ENSP00000539491.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869432.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869433.1",
"protein_id": "ENSP00000539492.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869433.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869434.1",
"protein_id": "ENSP00000539493.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869434.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869435.1",
"protein_id": "ENSP00000539494.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869435.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000928382.1",
"protein_id": "ENSP00000598441.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928382.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000960886.1",
"protein_id": "ENSP00000630945.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960886.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000960888.1",
"protein_id": "ENSP00000630947.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 418,
"cds_start": 119,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960888.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000869425.1",
"protein_id": "ENSP00000539484.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 415,
"cds_start": 119,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869425.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000960887.1",
"protein_id": "ENSP00000630946.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 409,
"cds_start": 119,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960887.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000570731.5",
"protein_id": "ENSP00000459869.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 131,
"cds_start": 119,
"cds_end": null,
"cds_length": 396,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570731.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000577053.1",
"protein_id": "ENSP00000460842.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 110,
"cds_start": 119,
"cds_end": null,
"cds_length": 335,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577053.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs",
"transcript": "ENST00000571149.5",
"protein_id": "ENSP00000460905.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 86,
"cds_start": 119,
"cds_end": null,
"cds_length": 261,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571149.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "c.-443_-442delTG",
"hgvs_p": null,
"transcript": "NM_001329904.2",
"protein_id": "NP_001316833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
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},
{
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"canonical": false,
"protein_coding": true,
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],
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"exon_count": 6,
"intron_rank": null,
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"hgvs_c": "c.-443_-442delTG",
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"transcript": "ENST00000576406.5",
"protein_id": "ENSP00000461214.1",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": 272,
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"feature": "ENST00000576406.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "SERPINF1",
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"hgvs_c": "c.85-8_85-7delTG",
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"transcript": "ENST00000869431.1",
"protein_id": "ENSP00000539490.1",
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"aa_length": 404,
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"cds_length": 1215,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000869431.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "SERPINF1",
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"hgvs_c": "c.85-5_85-4delTG",
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"transcript": "ENST00000571360.5",
"protein_id": "ENSP00000461660.1",
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"aa_start": null,
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"aa_length": 127,
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"cds_end": null,
"cds_length": 385,
"cdna_start": null,
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"cdna_length": 478,
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"biotype": "protein_coding",
"feature": "ENST00000571360.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "SERPINF1",
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"hgvs_c": "n.360_361delTG",
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"transcript": "ENST00000571870.5",
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"cds_end": null,
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"cdna_length": 739,
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"biotype": "pseudogene",
"feature": "ENST00000571870.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"hgvs_c": "n.119_120delTG",
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"transcript": "ENST00000573770.5",
"protein_id": "ENSP00000459107.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573770.5"
}
],
"gene_symbol": "SERPINF1",
"gene_hgnc_id": 8824,
"dbsnp": "rs398122518",
"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": 0.009999999776482582,
"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": 4.428,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_002615.7",
"gene_symbol": "SERPINF1",
"hgnc_id": 8824,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.119_120delTG",
"hgvs_p": "p.Val40fs"
}
],
"clinvar_disease": "Osteogenesis imperfecta type 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Osteogenesis imperfecta type 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}