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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: 19-35857380-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35857380&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35857380,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000360202.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "NM_199180.4",
"protein_id": "NP_954649.3",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 708,
"cds_start": 97,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "ENST00000360202.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "ENST00000360202.10",
"protein_id": "ENSP00000353331.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 708,
"cds_start": 97,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "NM_199180.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "ENST00000592409.5",
"protein_id": "ENSP00000465305.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 673,
"cds_start": 97,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "ENST00000262625.7",
"protein_id": "ENSP00000262625.6",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 633,
"cds_start": 97,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1969,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.61+200C>G",
"hgvs_p": null,
"transcript": "ENST00000347900.10",
"protein_id": "ENSP00000345067.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "NM_001363667.2",
"protein_id": "NP_001350596.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 673,
"cds_start": 97,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "NM_032123.7",
"protein_id": "NP_115499.5",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 633,
"cds_start": 97,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "ENST00000586102.7",
"protein_id": "ENSP00000466460.2",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 190,
"cds_start": 97,
"cds_end": null,
"cds_length": 573,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "XM_011527362.2",
"protein_id": "XP_011525664.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 708,
"cds_start": 97,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "XM_011527363.2",
"protein_id": "XP_011525665.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 708,
"cds_start": 97,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val",
"transcript": "XM_047439500.1",
"protein_id": "XP_047295456.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 673,
"cds_start": 97,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2938,
"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": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.61+200C>G",
"hgvs_p": null,
"transcript": "NM_001329530.2",
"protein_id": "NP_001316459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2830,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.61+200C>G",
"hgvs_p": null,
"transcript": "NM_199179.4",
"protein_id": "NP_954648.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NPHS1",
"gene_hgnc_id": 7908,
"hgvs_c": "n.560-5708G>C",
"hgvs_p": null,
"transcript": "ENST00000591817.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 581,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.61+200C>G",
"hgvs_p": null,
"transcript": "XM_011527365.2",
"protein_id": "XP_011525667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2893,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.61+200C>G",
"hgvs_p": null,
"transcript": "XM_047439501.1",
"protein_id": "XP_047295457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"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": "KIRREL2",
"gene_hgnc_id": 18816,
"hgvs_c": "c.61+200C>G",
"hgvs_p": null,
"transcript": "XM_047439502.1",
"protein_id": "XP_047295458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIRREL2",
"gene_hgnc_id": 18816,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16311490535736084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.955,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360202.10",
"gene_symbol": "KIRREL2",
"hgnc_id": 18816,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Leu33Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000591817.1",
"gene_symbol": "NPHS1",
"hgnc_id": 7908,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.560-5708G>C",
"hgvs_p": null
}
],
"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
}