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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: 1-156176849-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156176849&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156176849,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368285.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "NM_022367.4",
"protein_id": "NP_071762.2",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": "ENST00000368285.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "ENST00000368285.8",
"protein_id": "ENSP00000357268.3",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": "NM_022367.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "ENST00000355014.6",
"protein_id": "ENSP00000347117.2",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "ENST00000368282.1",
"protein_id": "ENSP00000357265.1",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "NM_001193300.2",
"protein_id": "NP_001180229.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "NM_001193301.2",
"protein_id": "NP_001180230.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "NM_001370567.1",
"protein_id": "NP_001357496.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Arg614Gln",
"transcript": "NM_001370568.1",
"protein_id": "NP_001357497.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 662,
"cds_start": 1841,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "NM_001193302.2",
"protein_id": "NP_001180231.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 629,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581Gln",
"transcript": "ENST00000368284.5",
"protein_id": "ENSP00000357267.1",
"transcript_support_level": 2,
"aa_start": 581,
"aa_end": null,
"aa_length": 629,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"transcript": "NM_001370569.1",
"protein_id": "NP_001357498.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 592,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2166,
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"cdna_length": 3061,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"transcript": "NM_001370571.1",
"protein_id": "NP_001357500.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 592,
"cds_start": 1631,
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"cds_length": 1779,
"cdna_start": 2568,
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"cdna_length": 3463,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "XM_011509872.3",
"protein_id": "XP_011508174.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 761,
"cds_start": 2138,
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"cdna_start": 2551,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 15,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
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"transcript": "XM_047427664.1",
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},
{
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"protein_coding": true,
"strand": true,
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"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "XM_047427670.1",
"protein_id": "XP_047283626.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
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"cds_start": 2138,
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"cdna_start": 2555,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"transcript": "XM_047427671.1",
"protein_id": "XP_047283627.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Arg675Gln",
"transcript": "XM_011509871.4",
"protein_id": "XP_011508173.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
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"cds_start": 2024,
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"cdna_start": 2084,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Arg614Gln",
"transcript": "XM_011509874.3",
"protein_id": "XP_011508176.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 662,
"cds_start": 1841,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SEMA4A",
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"hgvs_c": "c.1841G>A",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SEMA4A",
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"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Arg614Gln",
"transcript": "XM_011509878.3",
"protein_id": "XP_011508180.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SEMA4A",
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"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Arg614Gln",
"transcript": "XM_047427677.1",
"protein_id": "XP_047283633.1",
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"aa_start": 614,
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"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"hgvs_c": "n.*193G>A",
"hgvs_p": null,
"transcript": "ENST00000484155.1",
"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,
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"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEMA4A",
"gene_hgnc_id": 10729,
"dbsnp": "rs41265017",
"frequency_reference_population": 0.03990559,
"hom_count_reference_population": 1578,
"allele_count_reference_population": 64416,
"gnomad_exomes_af": 0.0406737,
"gnomad_genomes_af": 0.0325342,
"gnomad_exomes_ac": 59460,
"gnomad_genomes_ac": 4956,
"gnomad_exomes_homalt": 1446,
"gnomad_genomes_homalt": 132,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002231806516647339,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.0828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.126,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000368285.8",
"gene_symbol": "SEMA4A",
"hgnc_id": 10729,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln"
}
],
"clinvar_disease": " Recessive,Cone-rod dystrophy 10,Retinal dystrophy,Retinitis Pigmentosa,Retinitis pigmentosa,Retinitis pigmentosa 35,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:8 B:7",
"phenotype_combined": "Retinitis pigmentosa 35|not specified|Cone-rod dystrophy 10|Retinitis Pigmentosa, Recessive|Retinitis pigmentosa|not provided|Retinal dystrophy|Retinitis pigmentosa 35;Cone-rod dystrophy 10",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}