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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: 11-99819690-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=99819690&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 99819690,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014361.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "NM_014361.4",
"protein_id": "NP_055176.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1100,
"cds_start": 202,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": "ENST00000524871.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "ENST00000524871.6",
"protein_id": "ENSP00000435637.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 1100,
"cds_start": 202,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": "NM_014361.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "ENST00000527185.5",
"protein_id": "ENSP00000433575.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 911,
"cds_start": 202,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 4303,
"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": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "n.706A>C",
"hgvs_p": null,
"transcript": "ENST00000528727.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3144,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.56-25162A>C",
"hgvs_p": null,
"transcript": "ENST00000418526.6",
"protein_id": "ENSP00000393229.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "NM_001243270.2",
"protein_id": "NP_001230199.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1100,
"cds_start": 202,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "ENST00000528682.5",
"protein_id": "ENSP00000436185.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 1100,
"cds_start": 202,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.154A>C",
"hgvs_p": "p.Ser52Arg",
"transcript": "ENST00000279463.7",
"protein_id": "ENSP00000279463.4",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 1084,
"cds_start": 154,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "NM_001243271.2",
"protein_id": "NP_001230200.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 911,
"cds_start": 202,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "XM_017017926.2",
"protein_id": "XP_016873415.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 1100,
"cds_start": 202,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "XM_011542873.2",
"protein_id": "XP_011541175.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 647,
"cds_start": 202,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "XM_017017927.2",
"protein_id": "XP_016873416.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 647,
"cds_start": 202,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "XM_017017928.2",
"protein_id": "XP_016873417.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 647,
"cds_start": 202,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg",
"transcript": "XM_047427131.1",
"protein_id": "XP_047283087.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 635,
"cds_start": 202,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2540,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.56-25162A>C",
"hgvs_p": null,
"transcript": "NM_175566.2",
"protein_id": "NP_780775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5816,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.56-25162A>C",
"hgvs_p": null,
"transcript": "XM_011542871.2",
"protein_id": "XP_011541173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6277,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.56-25162A>C",
"hgvs_p": null,
"transcript": "XM_047427130.1",
"protein_id": "XP_047283086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6138,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.56-25162A>C",
"hgvs_p": null,
"transcript": "XM_017017929.2",
"protein_id": "XP_016873418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"dbsnp": "rs753357501",
"frequency_reference_population": 0.000001240064,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.8468e-7,
"gnomad_genomes_af": 0.00000656668,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09845194220542908,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.3799,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.815,
"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": 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": "NM_014361.4",
"gene_symbol": "CNTN5",
"hgnc_id": 2175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.202A>C",
"hgvs_p": "p.Ser68Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}