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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: 4-20256711-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=20256711&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 20256711,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_004787.4",
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "NM_004787.4",
"protein_id": "NP_004778.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1529,
"cds_start": 219,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504154.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004787.4"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "ENST00000504154.6",
"protein_id": "ENSP00000422591.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 1529,
"cds_start": 219,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004787.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504154.6"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "ENST00000503837.5",
"protein_id": "ENSP00000422261.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 1525,
"cds_start": 219,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503837.5"
},
{
"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": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "ENST00000503823.5",
"protein_id": "ENSP00000427548.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 1521,
"cds_start": 219,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503823.5"
},
{
"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": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "ENST00000273739.9",
"protein_id": "ENSP00000273739.5",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 1542,
"cds_start": 219,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273739.9"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "NM_001289135.3",
"protein_id": "NP_001276064.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1525,
"cds_start": 219,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289135.3"
},
{
"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": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "NM_001289136.3",
"protein_id": "NP_001276065.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1521,
"cds_start": 219,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289136.3"
},
{
"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": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "ENST00000883938.1",
"protein_id": "ENSP00000553997.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1505,
"cds_start": 219,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883938.1"
},
{
"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": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.102A>G",
"hgvs_p": "p.Thr34Thr",
"transcript": "ENST00000508824.1",
"protein_id": "ENSP00000426356.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 145,
"cds_start": 102,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508824.1"
},
{
"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": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "XM_005248211.3",
"protein_id": "XP_005248268.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1533,
"cds_start": 219,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248211.3"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr",
"transcript": "XM_006713986.3",
"protein_id": "XP_006714049.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 1509,
"cds_start": 219,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713986.3"
},
{
"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": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.117A>G",
"hgvs_p": "p.Thr39Thr",
"transcript": "XM_011513909.3",
"protein_id": "XP_011512211.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1499,
"cds_start": 117,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513909.3"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.117A>G",
"hgvs_p": "p.Thr39Thr",
"transcript": "XM_017008845.2",
"protein_id": "XP_016864334.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1495,
"cds_start": 117,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008845.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"hgvs_c": "c.-40A>G",
"hgvs_p": null,
"transcript": "ENST00000622093.4",
"protein_id": "ENSP00000482129.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622093.4"
}
],
"gene_symbol": "SLIT2",
"gene_hgnc_id": 11086,
"dbsnp": "rs1476281863",
"frequency_reference_population": 0.0000025369507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000210597,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.015,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004787.4",
"gene_symbol": "SLIT2",
"hgnc_id": 11086,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.219A>G",
"hgvs_p": "p.Thr73Thr"
}
],
"clinvar_disease": "SLIT2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SLIT2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}