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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: 7-100681733-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100681733&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100681733,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375765.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "NM_001375765.1",
"protein_id": "NP_001362694.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000678049.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375765.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000678049.1",
"protein_id": "ENSP00000503354.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375765.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678049.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000275732.5",
"protein_id": "ENSP00000275732.4",
"transcript_support_level": 1,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275732.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3127G>A",
"hgvs_p": "p.Val1043Met",
"transcript": "ENST00000893817.1",
"protein_id": "ENSP00000563876.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1046,
"cds_start": 3127,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893817.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "NM_001375766.1",
"protein_id": "NP_001362695.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375766.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000646601.1",
"protein_id": "ENSP00000494292.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646601.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000893815.1",
"protein_id": "ENSP00000563874.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893815.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000893816.1",
"protein_id": "ENSP00000563875.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893816.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000893819.1",
"protein_id": "ENSP00000563878.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893819.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000893821.1",
"protein_id": "ENSP00000563880.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893821.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000925356.1",
"protein_id": "ENSP00000595415.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925356.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000961704.1",
"protein_id": "ENSP00000631763.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961704.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000961705.1",
"protein_id": "ENSP00000631764.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961705.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"transcript": "ENST00000961707.1",
"protein_id": "ENSP00000631766.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1035,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961707.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"transcript": "ENST00000893814.1",
"protein_id": "ENSP00000563873.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893814.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"transcript": "ENST00000893818.1",
"protein_id": "ENSP00000563877.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893818.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"transcript": "ENST00000893820.1",
"protein_id": "ENSP00000563879.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893820.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"transcript": "ENST00000961706.1",
"protein_id": "ENSP00000631765.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3091,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961706.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3082G>A",
"hgvs_p": "p.Val1028Met",
"transcript": "ENST00000893813.1",
"protein_id": "ENSP00000563872.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1031,
"cds_start": 3082,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893813.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3034G>A",
"hgvs_p": "p.Val1012Met",
"transcript": "ENST00000925357.1",
"protein_id": "ENSP00000595416.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1015,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925357.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3186G>A",
"hgvs_p": "p.Ala1062Ala",
"transcript": "NM_001375759.1",
"protein_id": "NP_001362688.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3186,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375759.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.3186G>A",
"hgvs_p": "p.Ala1062Ala",
"transcript": "NM_001375760.1",
"protein_id": "NP_001362689.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
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],
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},
{
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],
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"biotype": "protein_coding",
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},
{
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"synonymous_variant"
],
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"hgvs_p": "p.Ala1062Ala",
"transcript": "NM_001375763.1",
"protein_id": "NP_001362692.1",
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"biotype": "protein_coding",
"feature": "NM_001375763.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 26,
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"gene_symbol": "GIGYF1",
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"biotype": "protein_coding",
"feature": "NM_001375764.1"
},
{
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"protein_coding": true,
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"synonymous_variant"
],
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"gene_symbol": "GIGYF1",
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"hgvs_c": "c.3111G>A",
"hgvs_p": "p.Ala1037Ala",
"transcript": "NM_001375767.1",
"protein_id": "NP_001362696.1",
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"biotype": "protein_coding",
"feature": "NM_001375767.1"
},
{
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],
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"gene_symbol": "GIGYF1",
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"transcript": "NM_001375768.1",
"protein_id": "NP_001362697.1",
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"biotype": "protein_coding",
"feature": "NM_001375768.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 27,
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"gene_symbol": "GIGYF1",
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"hgvs_c": "n.3841G>A",
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"transcript": "NR_164719.1",
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"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,
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"biotype": "pseudogene",
"feature": "NR_164719.1"
}
],
"gene_symbol": "GIGYF1",
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"dbsnp": "rs576725260",
"frequency_reference_population": 0.000012075867,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.000009148,
"gnomad_genomes_af": 0.0000393933,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0729503333568573,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2367,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.984,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_001375765.1",
"gene_symbol": "GIGYF1",
"hgnc_id": 9126,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met"
}
],
"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
}