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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: 5-9154547-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=9154547&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 9154547,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003966.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "NM_003966.3",
"protein_id": "NP_003957.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382496.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003966.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000382496.10",
"protein_id": "ENSP00000371936.5",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003966.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382496.10"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000652226.1",
"protein_id": "ENSP00000499013.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652226.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897596.1",
"protein_id": "ENSP00000567655.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897596.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897597.1",
"protein_id": "ENSP00000567656.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897597.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897598.1",
"protein_id": "ENSP00000567657.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897598.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897599.1",
"protein_id": "ENSP00000567658.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897599.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897601.1",
"protein_id": "ENSP00000567660.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897601.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897603.1",
"protein_id": "ENSP00000567662.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897603.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000897602.1",
"protein_id": "ENSP00000567661.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897602.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000957025.1",
"protein_id": "ENSP00000627084.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1073,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957025.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1341C>G",
"hgvs_p": "p.Gly447Gly",
"transcript": "ENST00000897600.1",
"protein_id": "ENSP00000567659.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1341,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897600.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_006714506.4",
"protein_id": "XP_006714569.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714506.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_006714507.4",
"protein_id": "XP_006714570.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714507.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_011514155.3",
"protein_id": "XP_011512457.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514155.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_011514156.3",
"protein_id": "XP_011512458.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514156.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_011514157.3",
"protein_id": "XP_011512459.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514157.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_011514158.3",
"protein_id": "XP_011512460.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514158.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_047417865.1",
"protein_id": "XP_047273821.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417865.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly",
"transcript": "XM_047417866.1",
"protein_id": "XP_047273822.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417866.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Gly427Gly",
"transcript": "XM_011514159.3",
"protein_id": "XP_011512461.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514159.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"hgvs_c": "c.951C>G",
"hgvs_p": "p.Gly317Gly",
"transcript": "XM_047417867.1",
"protein_id": "XP_047273823.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 917,
"cds_start": 951,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417867.1"
}
],
"gene_symbol": "SEMA5A",
"gene_hgnc_id": 10736,
"dbsnp": "rs1806151",
"frequency_reference_population": 0.49632618,
"hom_count_reference_population": 211362,
"allele_count_reference_population": 800320,
"gnomad_exomes_af": 0.507352,
"gnomad_genomes_af": 0.390262,
"gnomad_exomes_ac": 741061,
"gnomad_genomes_ac": 59259,
"gnomad_exomes_homalt": 197037,
"gnomad_genomes_homalt": 14325,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.736,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003966.3",
"gene_symbol": "SEMA5A",
"hgnc_id": 10736,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Gly474Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}