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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: 1-205071985-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205071985&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CNTN2",
"hgnc_id": 2172,
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_005076.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 1098,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " 5, familial adult myoclonic,Epilepsy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7916,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_005076.5",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331830.7",
"protein_coding": true,
"protein_id": "NP_005067.1",
"strand": true,
"transcript": "NM_005076.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7916,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000331830.7",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005076.5",
"protein_coding": true,
"protein_id": "ENSP00000330633.4",
"strand": true,
"transcript": "ENST00000331830.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000640428.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491474.1",
"strand": true,
"transcript": "ENST00000640428.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "A",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2634,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000853779.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2634G>A",
"hgvs_p": "p.Ala878Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523838.1",
"strand": true,
"transcript": "ENST00000853779.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7827,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001346083.2",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333012.1",
"strand": true,
"transcript": "NM_001346083.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000638378.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492617.1",
"strand": true,
"transcript": "ENST00000638378.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "A",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 2930,
"cds_end": null,
"cds_length": 3120,
"cds_start": 2580,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000853778.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2580G>A",
"hgvs_p": "p.Ala860Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523837.1",
"strand": true,
"transcript": "ENST00000853778.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "A",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7112,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2052,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000636312.2",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2052G>A",
"hgvs_p": "p.Ala684Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489754.2",
"strand": true,
"transcript": "ENST00000636312.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 526,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1581,
"cds_start": 819,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000638577.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ala273Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492457.1",
"strand": true,
"transcript": "ENST00000638577.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8244,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 3564,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047429102.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285058.1",
"strand": true,
"transcript": "XM_047429102.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "A",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8155,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 3564,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047429104.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2583G>A",
"hgvs_p": "p.Ala861Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285060.1",
"strand": true,
"transcript": "XM_047429104.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "A",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8447,
"cdna_start": 3055,
"cds_end": null,
"cds_length": 3549,
"cds_start": 2568,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_017002199.3",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2568G>A",
"hgvs_p": "p.Ala856Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857688.1",
"strand": true,
"transcript": "XM_017002199.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000481872.6",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2575G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481872.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000525433.2",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.1465G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525433.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638715.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.856G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000638715.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000639023.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2274G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639023.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000639122.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.*229G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491982.1",
"strand": true,
"transcript": "ENST00000639122.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000639302.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2583G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491671.1",
"strand": true,
"transcript": "ENST00000639302.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639788.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.742G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639788.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000639843.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.*907G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491680.1",
"strand": true,
"transcript": "ENST00000639843.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000639971.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
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