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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: 3-123284705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123284705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADCY5",
"hgnc_id": 236,
"hgvs_c": "c.3764C>T",
"hgvs_p": "p.Ala1255Val",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001378259.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0986,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2306077480316162,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "A",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 4234,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3689,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_183357.3",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3689C>T",
"hgvs_p": "p.Ala1230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000462833.6",
"protein_coding": true,
"protein_id": "NP_899200.1",
"strand": false,
"transcript": "NM_183357.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "A",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 4234,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3689,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000462833.6",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3689C>T",
"hgvs_p": "p.Ala1230Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183357.3",
"protein_coding": true,
"protein_id": "ENSP00000419361.1",
"strand": false,
"transcript": "ENST00000462833.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "A",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6643,
"cdna_start": 4234,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3851,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000850916.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3851C>T",
"hgvs_p": "p.Ala1284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520999.1",
"strand": false,
"transcript": "ENST00000850916.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6718,
"cdna_start": 4309,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3764,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378259.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3764C>T",
"hgvs_p": "p.Ala1255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365188.1",
"strand": false,
"transcript": "NM_001378259.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "A",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 3764,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3764,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000699718.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.3764C>T",
"hgvs_p": "p.Ala1255Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514543.1",
"strand": false,
"transcript": "ENST00000699718.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": 3201,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000491190.5",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2663C>T",
"hgvs_p": "p.Ala888Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418537.1",
"strand": false,
"transcript": "ENST00000491190.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 2999,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000470367.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2654C>T",
"hgvs_p": "p.Ala885Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514541.1",
"strand": false,
"transcript": "ENST00000470367.2",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 911,
"aa_ref": "A",
"aa_start": 880,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5123,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2639,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001199642.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2639C>T",
"hgvs_p": "p.Ala880Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186571.1",
"strand": false,
"transcript": "NM_001199642.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 911,
"aa_ref": "A",
"aa_start": 880,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2639,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000309879.9",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2639C>T",
"hgvs_p": "p.Ala880Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308685.5",
"strand": false,
"transcript": "ENST00000309879.9",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5063,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000466617.6",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2366C>T",
"hgvs_p": "p.Ala789Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420082.2",
"strand": false,
"transcript": "ENST00000466617.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2671,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000483566.2",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2366C>T",
"hgvs_p": "p.Ala789Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420252.2",
"strand": false,
"transcript": "ENST00000483566.2",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000699714.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2366C>T",
"hgvs_p": "p.Ala789Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514539.1",
"strand": false,
"transcript": "ENST00000699714.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 820,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000699715.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2366C>T",
"hgvs_p": "p.Ala789Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514540.1",
"strand": false,
"transcript": "ENST00000699715.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2366,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000699716.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2366C>T",
"hgvs_p": "p.Ala789Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514542.1",
"strand": false,
"transcript": "ENST00000699716.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 953,
"aa_ref": "A",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6057,
"cdna_start": 3648,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2765,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011512359.3",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2765C>T",
"hgvs_p": "p.Ala922Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510661.1",
"strand": false,
"transcript": "XM_011512359.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 936,
"aa_ref": "A",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_005247078.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2714C>T",
"hgvs_p": "p.Ala905Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247135.1",
"strand": false,
"transcript": "XM_005247078.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 928,
"aa_ref": "A",
"aa_start": 897,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5980,
"cdna_start": 3571,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2690,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047447359.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2690C>T",
"hgvs_p": "p.Ala897Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303315.1",
"strand": false,
"transcript": "XM_047447359.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 923,
"aa_ref": "A",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 2847,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2675,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011512360.3",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2675C>T",
"hgvs_p": "p.Ala892Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510662.1",
"strand": false,
"transcript": "XM_011512360.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 920,
"aa_ref": "A",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 2681,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2666,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017005638.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2666C>T",
"hgvs_p": "p.Ala889Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861127.1",
"strand": false,
"transcript": "XM_017005638.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 920,
"aa_ref": "A",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5090,
"cdna_start": 2681,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2666,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017005639.1",
"gene_hgnc_id": 236,
"gene_symbol": "ADCY5",
"hgvs_c": "c.2666C>T",
"hgvs_p": "p.Ala889Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861128.1",
"strand": false,
"transcript": "XM_017005639.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_006713483.2",
"gene_hgnc_id": 236,
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