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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: 1-36172503-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36172503&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 36172503,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018067.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "NM_001388490.1",
"protein_id": "NP_001375419.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 840,
"cds_start": 500,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000474796.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388490.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000474796.2",
"protein_id": "ENSP00000507044.1",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 840,
"cds_start": 500,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388490.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474796.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000373151.6",
"protein_id": "ENSP00000362244.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 841,
"cds_start": 500,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373151.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000316156.8",
"protein_id": "ENSP00000320228.4",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 803,
"cds_start": 500,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316156.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "NM_018067.5",
"protein_id": "NP_060537.3",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 841,
"cds_start": 500,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018067.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879386.1",
"protein_id": "ENSP00000549445.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 839,
"cds_start": 500,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879386.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879388.1",
"protein_id": "ENSP00000549447.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 839,
"cds_start": 500,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879388.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879385.1",
"protein_id": "ENSP00000549444.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 838,
"cds_start": 500,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879385.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879392.1",
"protein_id": "ENSP00000549451.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 817,
"cds_start": 500,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879392.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879391.1",
"protein_id": "ENSP00000549450.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 815,
"cds_start": 500,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879391.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "NM_001286366.2",
"protein_id": "NP_001273295.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 808,
"cds_start": 500,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286366.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000373150.8",
"protein_id": "ENSP00000362243.4",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 808,
"cds_start": 500,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373150.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879383.1",
"protein_id": "ENSP00000549442.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 804,
"cds_start": 500,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879383.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "NM_001286365.2",
"protein_id": "NP_001273294.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 803,
"cds_start": 500,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286365.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879389.1",
"protein_id": "ENSP00000549448.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 803,
"cds_start": 500,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879389.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879387.1",
"protein_id": "ENSP00000549446.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 802,
"cds_start": 500,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879387.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000967866.1",
"protein_id": "ENSP00000637925.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 802,
"cds_start": 500,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967866.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000967869.1",
"protein_id": "ENSP00000637928.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 802,
"cds_start": 500,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967869.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879384.1",
"protein_id": "ENSP00000549443.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 801,
"cds_start": 500,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879384.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879393.1",
"protein_id": "ENSP00000549452.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 718,
"cds_start": 500,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879393.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000967868.1",
"protein_id": "ENSP00000637927.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 626,
"cds_start": 500,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967868.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000879394.1",
"protein_id": "ENSP00000549453.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 609,
"cds_start": 500,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879394.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"exon_count": 14,
"intron_rank": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"gene_symbol": "MAP7D1",
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"transcript": "ENST00000967870.1",
"protein_id": "ENSP00000637929.1",
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"biotype": "protein_coding",
"feature": "ENST00000967870.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"gene_symbol": "MAP7D1",
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"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "ENST00000429533.6",
"protein_id": "ENSP00000390091.2",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429533.6"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 4,
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"gene_symbol": "MAP7D1",
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"hgvs_p": "p.Ala128Val",
"transcript": "ENST00000530729.1",
"protein_id": "ENSP00000435126.1",
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"aa_end": null,
"aa_length": 139,
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"cds_end": null,
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"cdna_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000530729.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "c.391+1188C>T",
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"transcript": "ENST00000879390.1",
"protein_id": "ENSP00000549449.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
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"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"hgvs_c": "n.536C>T",
"hgvs_p": null,
"transcript": "ENST00000462118.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462118.1"
}
],
"gene_symbol": "MAP7D1",
"gene_hgnc_id": 25514,
"dbsnp": "rs142245111",
"frequency_reference_population": 0.0000013807348,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138073,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4986957013607025,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.403,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.027,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018067.5",
"gene_symbol": "MAP7D1",
"hgnc_id": 25514,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val"
}
],
"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
}