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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: 12-55694810-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55694810&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55694810,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000257879.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.His722Tyr",
"transcript": "NM_002206.3",
"protein_id": "NP_002197.2",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "ENST00000257879.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.His722Tyr",
"transcript": "ENST00000257879.11",
"protein_id": "ENSP00000257879.7",
"transcript_support_level": 1,
"aa_start": 722,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2164,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "NM_002206.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.His726Tyr",
"transcript": "ENST00000553804.6",
"protein_id": "ENSP00000452120.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.His766Tyr",
"transcript": "NM_001410977.1",
"protein_id": "NP_001397906.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.His766Tyr",
"transcript": "ENST00000555728.5",
"protein_id": "ENSP00000452387.1",
"transcript_support_level": 5,
"aa_start": 766,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.His726Tyr",
"transcript": "NM_001144996.2",
"protein_id": "NP_001138468.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.His720Tyr",
"transcript": "NM_001414029.1",
"protein_id": "NP_001400958.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2158,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.His716Tyr",
"transcript": "NM_001374465.1",
"protein_id": "NP_001361394.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2146,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.His716Tyr",
"transcript": "ENST00000347027.10",
"protein_id": "ENSP00000343009.6",
"transcript_support_level": 5,
"aa_start": 716,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2146,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.His726Tyr",
"transcript": "ENST00000557555.3",
"protein_id": "ENSP00000451039.3",
"transcript_support_level": 5,
"aa_start": 726,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2176,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.His726Tyr",
"transcript": "ENST00000691973.1",
"protein_id": "ENSP00000509141.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2176,
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"cds_length": 3354,
"cdna_start": 2176,
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"cdna_length": 3811,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2089C>T",
"hgvs_p": "p.His697Tyr",
"transcript": "NM_001414030.1",
"protein_id": "NP_001400959.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2089,
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"cdna_start": 2311,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2077C>T",
"hgvs_p": "p.His693Tyr",
"transcript": "NM_001414031.1",
"protein_id": "NP_001400960.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2077,
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"cdna_start": 2299,
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"feature": null
},
{
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"aa_alt": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2044C>T",
"hgvs_p": "p.His682Tyr",
"transcript": "NM_001414032.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1981C>T",
"hgvs_p": "p.His661Tyr",
"transcript": "NM_001414033.1",
"protein_id": "NP_001400962.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
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"cds_start": 1981,
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"cdna_start": 2203,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.His629Tyr",
"transcript": "NM_001144997.2",
"protein_id": "NP_001138469.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1885C>T",
"hgvs_p": "p.His629Tyr",
"transcript": "ENST00000452168.6",
"protein_id": "ENSP00000393844.2",
"transcript_support_level": 2,
"aa_start": 629,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1837C>T",
"hgvs_p": "p.His613Tyr",
"transcript": "NM_001367993.1",
"protein_id": "NP_001354922.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
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"cds_start": 1837,
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"cdna_start": 2194,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 15,
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"intron_rank": null,
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"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1825C>T",
"hgvs_p": "p.His609Tyr",
"transcript": "NM_001414035.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 13,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
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"hgvs_c": "c.1690C>T",
"hgvs_p": "p.His564Tyr",
"transcript": "ENST00000557257.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "ITGA7",
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"hgvs_c": "c.820C>T",
"hgvs_p": "p.His274Tyr",
"transcript": "NM_001367994.1",
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"aa_start": 274,
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"cds_start": 820,
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"cdna_start": 2214,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.His760Tyr",
"transcript": "XM_005268840.3",
"protein_id": "XP_005268897.1",
"transcript_support_level": null,
"aa_start": 760,
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"aa_length": 1175,
"cds_start": 2278,
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"cdna_start": 2500,
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"cdna_length": 4240,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.867-115C>T",
"hgvs_p": null,
"transcript": "ENST00000554327.6",
"protein_id": "ENSP00000450693.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"dbsnp": "rs1555161168",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26641228795051575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.677,
"phylop100way_prediction": "Benign",
"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": 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": "ENST00000257879.11",
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.His722Tyr"
}
],
"clinvar_disease": "Congenital muscular dystrophy due to integrin alpha-7 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital muscular dystrophy due to integrin alpha-7 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}