← 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: 2-9493770-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9493770&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9493770,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003183.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Asp657Gly",
"transcript": "NM_003183.6",
"protein_id": "NP_003174.3",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 824,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": "ENST00000310823.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003183.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Asp657Gly",
"transcript": "ENST00000310823.8",
"protein_id": "ENSP00000309968.3",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 824,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": "NM_003183.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310823.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.2048A>G",
"hgvs_p": "p.Asp683Gly",
"transcript": "ENST00000926352.1",
"protein_id": "ENSP00000596411.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 850,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926352.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Asp667Gly",
"transcript": "ENST00000945284.1",
"protein_id": "ENSP00000615343.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 834,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945284.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Asp657Gly",
"transcript": "ENST00000945282.1",
"protein_id": "ENSP00000615341.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 822,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945282.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1880A>G",
"hgvs_p": "p.Asp627Gly",
"transcript": "ENST00000699318.1",
"protein_id": "ENSP00000514297.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 794,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699318.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Asp606Gly",
"transcript": "ENST00000867642.1",
"protein_id": "ENSP00000537701.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 773,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867642.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1706A>G",
"hgvs_p": "p.Asp569Gly",
"transcript": "ENST00000945283.1",
"protein_id": "ENSP00000615342.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 736,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945283.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asp437Gly",
"transcript": "NM_001382777.1",
"protein_id": "NP_001369706.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 604,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382777.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Asp358Gly",
"transcript": "NM_001382778.1",
"protein_id": "NP_001369707.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 525,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382778.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Asp626Gly",
"transcript": "XM_047445610.1",
"protein_id": "XP_047301566.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 793,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2260,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445610.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Asp358Gly",
"transcript": "XM_047445611.1",
"protein_id": "XP_047301567.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 525,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445611.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Asp358Gly",
"transcript": "XM_047445612.1",
"protein_id": "XP_047301568.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 525,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "c.*64-932T>C",
"hgvs_p": null,
"transcript": "ENST00000481367.5",
"protein_id": "ENSP00000419807.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481367.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1430A>G",
"hgvs_p": null,
"transcript": "ENST00000647610.1",
"protein_id": "ENSP00000497929.1",
"transcript_support_level": null,
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1500A>G",
"hgvs_p": null,
"transcript": "ENST00000647979.1",
"protein_id": "ENSP00000497542.1",
"transcript_support_level": null,
"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": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.2197A>G",
"hgvs_p": null,
"transcript": "ENST00000648548.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000648548.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.2040A>G",
"hgvs_p": null,
"transcript": "ENST00000648857.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000648857.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1731A>G",
"hgvs_p": null,
"transcript": "ENST00000649227.1",
"protein_id": "ENSP00000497830.1",
"transcript_support_level": null,
"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": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649227.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1751A>G",
"hgvs_p": null,
"transcript": "ENST00000650116.1",
"protein_id": "ENSP00000497592.1",
"transcript_support_level": null,
"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": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650116.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.1760A>G",
"hgvs_p": null,
"transcript": "ENST00000699315.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000699315.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1873A>G",
"hgvs_p": null,
"transcript": "ENST00000699316.1",
"protein_id": "ENSP00000514295.1",
"transcript_support_level": null,
"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": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699316.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*3283A>G",
"hgvs_p": null,
"transcript": "ENST00000699317.1",
"protein_id": "ENSP00000514296.1",
"transcript_support_level": null,
"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": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699317.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.4208A>G",
"hgvs_p": null,
"transcript": "ENST00000699319.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699319.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.1111A>G",
"hgvs_p": null,
"transcript": "ENST00000699320.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699320.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1351A>G",
"hgvs_p": null,
"transcript": "ENST00000699321.1",
"protein_id": "ENSP00000514298.1",
"transcript_support_level": null,
"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": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1430A>G",
"hgvs_p": null,
"transcript": "ENST00000647610.1",
"protein_id": "ENSP00000497929.1",
"transcript_support_level": null,
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1500A>G",
"hgvs_p": null,
"transcript": "ENST00000647979.1",
"protein_id": "ENSP00000497542.1",
"transcript_support_level": null,
"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": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647979.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1731A>G",
"hgvs_p": null,
"transcript": "ENST00000649227.1",
"protein_id": "ENSP00000497830.1",
"transcript_support_level": null,
"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": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649227.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1751A>G",
"hgvs_p": null,
"transcript": "ENST00000650116.1",
"protein_id": "ENSP00000497592.1",
"transcript_support_level": null,
"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": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1873A>G",
"hgvs_p": null,
"transcript": "ENST00000699316.1",
"protein_id": "ENSP00000514295.1",
"transcript_support_level": null,
"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": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699316.1"
},
{
"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": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*3283A>G",
"hgvs_p": null,
"transcript": "ENST00000699317.1",
"protein_id": "ENSP00000514296.1",
"transcript_support_level": null,
"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": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699317.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1351A>G",
"hgvs_p": null,
"transcript": "ENST00000699321.1",
"protein_id": "ENSP00000514298.1",
"transcript_support_level": null,
"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": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.827-932T>C",
"hgvs_p": null,
"transcript": "XR_001738718.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738718.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.827-932T>C",
"hgvs_p": null,
"transcript": "XR_001738721.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738721.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.774-932T>C",
"hgvs_p": null,
"transcript": "XR_001738722.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738722.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.774-932T>C",
"hgvs_p": null,
"transcript": "XR_001738723.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738723.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.774-932T>C",
"hgvs_p": null,
"transcript": "XR_001738724.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738724.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.827-932T>C",
"hgvs_p": null,
"transcript": "XR_002959282.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002959282.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.827-932T>C",
"hgvs_p": null,
"transcript": "XR_007073104.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.826+5378T>C",
"hgvs_p": null,
"transcript": "XR_007073105.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.827-932T>C",
"hgvs_p": null,
"transcript": "XR_007073106.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073106.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.892+5378T>C",
"hgvs_p": null,
"transcript": "XR_007073107.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.818-932T>C",
"hgvs_p": null,
"transcript": "XR_007073108.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.774-932T>C",
"hgvs_p": null,
"transcript": "XR_007073109.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.765-932T>C",
"hgvs_p": null,
"transcript": "XR_007073110.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.827-932T>C",
"hgvs_p": null,
"transcript": "XR_426950.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_426950.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "n.774-932T>C",
"hgvs_p": null,
"transcript": "XR_426953.4",
"protein_id": null,
"transcript_support_level": null,
"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": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_426953.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*19A>G",
"hgvs_p": null,
"transcript": "ENST00000649686.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649686.1"
}
],
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"dbsnp": "rs144657795",
"frequency_reference_population": 0.0001728648,
"hom_count_reference_population": 0,
"allele_count_reference_population": 279,
"gnomad_exomes_af": 0.000171713,
"gnomad_genomes_af": 0.000183925,
"gnomad_exomes_ac": 251,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6394663453102112,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.395,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6763,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.67,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_003183.6",
"gene_symbol": "ADAM17",
"hgnc_id": 195,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Asp657Gly"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000481367.5",
"gene_symbol": "IAH1",
"hgnc_id": 27696,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*64-932T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 1, neonatal,Inborn genetic diseases,Inflammatory skin and bowel disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inflammatory skin and bowel disease, neonatal, 1|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}