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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: 11-100061278-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=100061278&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 100061278,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000524871.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "NM_014361.4",
"protein_id": "NP_055176.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": "ENST00000524871.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "ENST00000524871.6",
"protein_id": "ENSP00000435637.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": "NM_014361.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.825A>T",
"hgvs_p": "p.Lys275Asn",
"transcript": "ENST00000418526.6",
"protein_id": "ENSP00000393229.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 1026,
"cds_start": 825,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "ENST00000527185.5",
"protein_id": "ENSP00000433575.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 911,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1386,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "n.1551A>T",
"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": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "NM_001243270.2",
"protein_id": "NP_001230199.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "ENST00000528682.5",
"protein_id": "ENSP00000436185.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.999A>T",
"hgvs_p": "p.Lys333Asn",
"transcript": "ENST00000279463.7",
"protein_id": "ENSP00000279463.4",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 1084,
"cds_start": 999,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.825A>T",
"hgvs_p": "p.Lys275Asn",
"transcript": "NM_175566.2",
"protein_id": "NP_780775.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1026,
"cds_start": 825,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "NM_001243271.2",
"protein_id": "NP_001230200.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 911,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "XM_017017926.2",
"protein_id": "XP_016873415.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.825A>T",
"hgvs_p": "p.Lys275Asn",
"transcript": "XM_011542871.2",
"protein_id": "XP_011541173.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1026,
"cds_start": 825,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 6277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.825A>T",
"hgvs_p": "p.Lys275Asn",
"transcript": "XM_047427130.1",
"protein_id": "XP_047283086.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1026,
"cds_start": 825,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "XM_011542873.2",
"protein_id": "XP_011541175.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 647,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "XM_017017927.2",
"protein_id": "XP_016873416.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 647,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "XM_017017928.2",
"protein_id": "XP_016873417.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 647,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "XM_047427131.1",
"protein_id": "XP_047283087.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 635,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"hgvs_c": "c.825A>T",
"hgvs_p": "p.Lys275Asn",
"transcript": "XM_017017929.2",
"protein_id": "XP_016873418.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 573,
"cds_start": 825,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2744,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105369456",
"gene_hgnc_id": null,
"hgvs_c": "n.208-5748T>A",
"hgvs_p": null,
"transcript": "XR_947948.3",
"protein_id": null,
"transcript_support_level": null,
"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": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNTN5",
"gene_hgnc_id": 2175,
"dbsnp": "rs186615197",
"frequency_reference_population": 0.0010857306,
"hom_count_reference_population": 17,
"allele_count_reference_population": 1752,
"gnomad_exomes_af": 0.00104218,
"gnomad_genomes_af": 0.00150363,
"gnomad_exomes_ac": 1523,
"gnomad_genomes_ac": 229,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009718626737594604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.455,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.423,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.661,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000524871.6",
"gene_symbol": "CNTN5",
"hgnc_id": 2175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1047A>T",
"hgvs_p": "p.Lys349Asn"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_947948.3",
"gene_symbol": "LOC105369456",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-5748T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}