← Back to variant description
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: 12-55688941-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55688941&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55688941,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000257879.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Thr954Met",
"transcript": "NM_002206.3",
"protein_id": "NP_002197.2",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3083,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "ENST00000257879.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Thr954Met",
"transcript": "ENST00000257879.11",
"protein_id": "ENSP00000257879.7",
"transcript_support_level": 1,
"aa_start": 954,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3083,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": "NM_002206.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2873C>T",
"hgvs_p": "p.Thr958Met",
"transcript": "ENST00000553804.6",
"protein_id": "ENSP00000452120.1",
"transcript_support_level": 1,
"aa_start": 958,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2993C>T",
"hgvs_p": "p.Thr998Met",
"transcript": "NM_001410977.1",
"protein_id": "NP_001397906.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2993C>T",
"hgvs_p": "p.Thr998Met",
"transcript": "ENST00000555728.5",
"protein_id": "ENSP00000452387.1",
"transcript_support_level": 5,
"aa_start": 998,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2873C>T",
"hgvs_p": "p.Thr958Met",
"transcript": "NM_001144996.2",
"protein_id": "NP_001138468.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2855C>T",
"hgvs_p": "p.Thr952Met",
"transcript": "NM_001414029.1",
"protein_id": "NP_001400958.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2843C>T",
"hgvs_p": "p.Thr948Met",
"transcript": "NM_001374465.1",
"protein_id": "NP_001361394.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3065,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2843C>T",
"hgvs_p": "p.Thr948Met",
"transcript": "ENST00000347027.10",
"protein_id": "ENSP00000343009.6",
"transcript_support_level": 5,
"aa_start": 948,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2873C>T",
"hgvs_p": "p.Thr958Met",
"transcript": "ENST00000557555.3",
"protein_id": "ENSP00000451039.3",
"transcript_support_level": 5,
"aa_start": 958,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Thr934Met",
"transcript": "ENST00000691973.1",
"protein_id": "ENSP00000509141.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2786C>T",
"hgvs_p": "p.Thr929Met",
"transcript": "NM_001414030.1",
"protein_id": "NP_001400959.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2774C>T",
"hgvs_p": "p.Thr925Met",
"transcript": "NM_001414031.1",
"protein_id": "NP_001400960.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2741C>T",
"hgvs_p": "p.Thr914Met",
"transcript": "NM_001414032.1",
"protein_id": "NP_001400961.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 2963,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2678C>T",
"hgvs_p": "p.Thr893Met",
"transcript": "NM_001414033.1",
"protein_id": "NP_001400962.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2636C>T",
"hgvs_p": "p.Thr879Met",
"transcript": "NM_001414034.1",
"protein_id": "NP_001400963.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Thr861Met",
"transcript": "NM_001144997.2",
"protein_id": "NP_001138469.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Thr861Met",
"transcript": "ENST00000452168.6",
"protein_id": "ENSP00000393844.2",
"transcript_support_level": 2,
"aa_start": 861,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2582,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2534C>T",
"hgvs_p": "p.Thr845Met",
"transcript": "NM_001367993.1",
"protein_id": "NP_001354922.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2534,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Thr841Met",
"transcript": "NM_001414035.1",
"protein_id": "NP_001400964.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2387C>T",
"hgvs_p": "p.Thr796Met",
"transcript": "ENST00000557257.2",
"protein_id": "ENSP00000450578.2",
"transcript_support_level": 4,
"aa_start": 796,
"aa_end": null,
"aa_length": 979,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1517C>T",
"hgvs_p": "p.Thr506Met",
"transcript": "NM_001367994.1",
"protein_id": "NP_001354923.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 689,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2975C>T",
"hgvs_p": "p.Thr992Met",
"transcript": "XM_005268840.3",
"protein_id": "XP_005268897.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2993C>T",
"hgvs_p": "p.Thr998Met",
"transcript": "XM_005268841.3",
"protein_id": "XP_005268898.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2654C>T",
"hgvs_p": "p.Thr885Met",
"transcript": "XM_005268844.2",
"protein_id": "XP_005268901.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2654C>T",
"hgvs_p": "p.Thr885Met",
"transcript": "XM_047428792.1",
"protein_id": "XP_047284748.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2654C>T",
"hgvs_p": "p.Thr885Met",
"transcript": "XM_047428793.1",
"protein_id": "XP_047284749.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2603C>T",
"hgvs_p": "p.Thr868Met",
"transcript": "XM_017019265.2",
"protein_id": "XP_016874754.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2603C>T",
"hgvs_p": "p.Thr868Met",
"transcript": "XM_047428794.1",
"protein_id": "XP_047284750.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2603C>T",
"hgvs_p": "p.Thr868Met",
"transcript": "XM_047428795.1",
"protein_id": "XP_047284751.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2603C>T",
"hgvs_p": "p.Thr868Met",
"transcript": "XM_047428796.1",
"protein_id": "XP_047284752.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2894,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Thr841Met",
"transcript": "XM_047428797.1",
"protein_id": "XP_047284753.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2519C>T",
"hgvs_p": "p.Thr840Met",
"transcript": "XM_005268848.2",
"protein_id": "XP_005268905.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2519,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2504C>T",
"hgvs_p": "p.Thr835Met",
"transcript": "XM_047428798.1",
"protein_id": "XP_047284754.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2504,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.2228C>T",
"hgvs_p": "p.Thr743Met",
"transcript": "XM_047428799.1",
"protein_id": "XP_047284755.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 926,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*2485C>T",
"hgvs_p": null,
"transcript": "ENST00000553893.6",
"protein_id": "ENSP00000452467.1",
"transcript_support_level": 4,
"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": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*598C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.2276C>T",
"hgvs_p": null,
"transcript": "ENST00000557058.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*2572C>T",
"hgvs_p": null,
"transcript": "ENST00000686981.1",
"protein_id": "ENSP00000510795.1",
"transcript_support_level": null,
"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": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.967C>T",
"hgvs_p": null,
"transcript": "ENST00000687390.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.1975C>T",
"hgvs_p": null,
"transcript": "ENST00000688413.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*1345C>T",
"hgvs_p": null,
"transcript": "ENST00000691052.1",
"protein_id": "ENSP00000508886.1",
"transcript_support_level": null,
"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": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*1313C>T",
"hgvs_p": null,
"transcript": "ENST00000691846.1",
"protein_id": "ENSP00000508870.1",
"transcript_support_level": null,
"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": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*2485C>T",
"hgvs_p": null,
"transcript": "ENST00000553893.6",
"protein_id": "ENSP00000452467.1",
"transcript_support_level": 4,
"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": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*598C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*2572C>T",
"hgvs_p": null,
"transcript": "ENST00000686981.1",
"protein_id": "ENSP00000510795.1",
"transcript_support_level": null,
"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": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*1345C>T",
"hgvs_p": null,
"transcript": "ENST00000691052.1",
"protein_id": "ENSP00000508886.1",
"transcript_support_level": null,
"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": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "n.*1313C>T",
"hgvs_p": null,
"transcript": "ENST00000691846.1",
"protein_id": "ENSP00000508870.1",
"transcript_support_level": null,
"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": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"dbsnp": "rs142361411",
"frequency_reference_population": 0.000039037328,
"hom_count_reference_population": 1,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.000036945,
"gnomad_genomes_af": 0.0000591304,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4336414635181427,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.2242,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.706,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257879.11",
"gene_symbol": "ITGA7",
"hgnc_id": 6143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2861C>T",
"hgvs_p": "p.Thr954Met"
}
],
"clinvar_disease": "Congenital muscular dystrophy due to integrin alpha-7 deficiency,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Congenital muscular dystrophy due to integrin alpha-7 deficiency|not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}