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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: 11-119126981-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119126981&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119126981,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001351964.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "NM_198971.3",
"protein_id": "NP_945322.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350777.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198971.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000350777.7",
"protein_id": "ENSP00000318085.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198971.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350777.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-680C>G",
"hgvs_p": null,
"transcript": "NM_001351964.2",
"protein_id": "NP_001338893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351964.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-858C>G",
"hgvs_p": null,
"transcript": "NM_001351965.2",
"protein_id": "NP_001338894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351965.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-858C>G",
"hgvs_p": null,
"transcript": "NM_001351966.2",
"protein_id": "NP_001338895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351966.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-760C>G",
"hgvs_p": null,
"transcript": "NM_001351971.2",
"protein_id": "NP_001338900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351971.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-760C>G",
"hgvs_p": null,
"transcript": "NM_001351972.2",
"protein_id": "NP_001338901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351972.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-760C>G",
"hgvs_p": null,
"transcript": "NM_001351974.2",
"protein_id": "NP_001338903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351974.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "NM_001351957.2",
"protein_id": "NP_001338886.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 540,
"cds_start": 37,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351957.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862574.1",
"protein_id": "ENSP00000532633.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 540,
"cds_start": 37,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862574.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000930224.1",
"protein_id": "ENSP00000600284.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 540,
"cds_start": 37,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930224.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862578.1",
"protein_id": "ENSP00000532637.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 527,
"cds_start": 37,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862578.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "NM_001351958.2",
"protein_id": "NP_001338887.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351958.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "NM_001351959.2",
"protein_id": "NP_001338888.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351959.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "NM_001351960.2",
"protein_id": "NP_001338889.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351960.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "NM_015517.5",
"protein_id": "NP_056332.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015517.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862570.1",
"protein_id": "ENSP00000532629.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862570.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862571.1",
"protein_id": "ENSP00000532630.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862571.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862572.1",
"protein_id": "ENSP00000532631.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862572.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862573.1",
"protein_id": "ENSP00000532632.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862573.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862575.1",
"protein_id": "ENSP00000532634.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862575.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.37C>G",
"hgvs_p": "p.Leu13Val",
"transcript": "ENST00000862576.1",
"protein_id": "ENSP00000532635.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 517,
"cds_start": 37,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 12,
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"gene_symbol": "HINFP",
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"hgvs_c": "c.-760C>G",
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"transcript": "NM_001351974.2",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351974.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "HINFP",
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"hgvs_c": "c.-437-3744C>G",
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"transcript": "NM_001351963.2",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351963.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "HINFP",
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"hgvs_c": "c.-615-3744C>G",
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"transcript": "NM_001351969.2",
"protein_id": "NP_001338898.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351969.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "n.96C>G",
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"transcript": "ENST00000527206.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000527206.1"
},
{
"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": 3,
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"gene_symbol": "HINFP",
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"transcript": "ENST00000529354.1",
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"cdna_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000529354.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "HINFP",
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"hgvs_c": "n.2994C>G",
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"transcript": "ENST00000532312.2",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000532312.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "HINFP",
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"hgvs_c": "n.31-3744C>G",
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"transcript": "ENST00000527354.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527354.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "n.32-3744C>G",
"hgvs_p": null,
"transcript": "ENST00000531360.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000531360.5"
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],
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"dbsnp": "rs369592186",
"frequency_reference_population": 0.000058870774,
"hom_count_reference_population": 0,
"allele_count_reference_population": 95,
"gnomad_exomes_af": 0.0000622651,
"gnomad_genomes_af": 0.0000262795,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18200066685676575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.0886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.121,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001351964.2",
"gene_symbol": "HINFP",
"hgnc_id": 17850,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-680C>G",
"hgvs_p": null
}
],
"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
}