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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: 1-156154662-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156154662&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156154662,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000368285.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "NM_022367.4",
"protein_id": "NP_071762.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": "ENST00000368285.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "ENST00000368285.8",
"protein_id": "ENSP00000357268.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": "NM_022367.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "ENST00000355014.6",
"protein_id": "ENSP00000347117.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "ENST00000368282.1",
"protein_id": "ENSP00000357265.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "NM_001193300.2",
"protein_id": "NP_001180229.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "NM_001193301.2",
"protein_id": "NP_001180230.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "NM_001370567.1",
"protein_id": "NP_001357496.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "ENST00000435124.5",
"protein_id": "ENSP00000401391.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 320,
"cds_start": 84,
"cds_end": null,
"cds_length": 963,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "ENST00000438830.5",
"protein_id": "ENSP00000392865.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 235,
"cds_start": 84,
"cds_end": null,
"cds_length": 710,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "ENST00000633494.1",
"protein_id": "ENSP00000487730.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 99,
"cds_start": 84,
"cds_end": null,
"cds_length": 300,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "XM_011509872.3",
"protein_id": "XP_011508174.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "XM_047427664.1",
"protein_id": "XP_047283620.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "XM_047427670.1",
"protein_id": "XP_047283626.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr",
"transcript": "XM_047427671.1",
"protein_id": "XP_047283627.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 761,
"cds_start": 84,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "n.174G>A",
"hgvs_p": null,
"transcript": "ENST00000485575.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-441G>A",
"hgvs_p": null,
"transcript": "NM_001370571.1",
"protein_id": "NP_001357500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
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"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-158-1752G>A",
"hgvs_p": null,
"transcript": "NM_001370568.1",
"protein_id": "NP_001357497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-159+898G>A",
"hgvs_p": null,
"transcript": "NM_001193302.2",
"protein_id": "NP_001180231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-159+898G>A",
"hgvs_p": null,
"transcript": "ENST00000368284.5",
"protein_id": "ENSP00000357267.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-385-1752G>A",
"hgvs_p": null,
"transcript": "NM_001370569.1",
"protein_id": "NP_001357498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
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"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-158-1752G>A",
"hgvs_p": null,
"transcript": "ENST00000414683.5",
"protein_id": "ENSP00000399230.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
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"cds_length": 661,
"cdna_start": null,
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"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.26-1752G>A",
"hgvs_p": null,
"transcript": "XM_011509871.4",
"protein_id": "XP_011508173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.-159+898G>A",
"hgvs_p": null,
"transcript": "XM_011509874.3",
"protein_id": "XP_011508176.1",
"transcript_support_level": null,
"aa_start": null,
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}
],
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"dbsnp": "rs149711133",
"frequency_reference_population": 0.0003428389,
"hom_count_reference_population": 3,
"allele_count_reference_population": 550,
"gnomad_exomes_af": 0.000313385,
"gnomad_genomes_af": 0.000623499,
"gnomad_exomes_ac": 455,
"gnomad_genomes_ac": 95,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.223,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000368285.8",
"gene_symbol": "SEMA4A",
"hgnc_id": 10729,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Thr28Thr"
}
],
"clinvar_disease": " Recessive,Cone-rod dystrophy 10,Retinitis Pigmentosa,Retinitis pigmentosa,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1 B:2",
"phenotype_combined": "not specified|Retinitis Pigmentosa, Recessive|Cone-rod dystrophy 10|not provided|Retinitis pigmentosa",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}