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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: 2-219221200-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219221200&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATG9A",
"hgnc_id": 22408,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024085.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000284820",
"hgnc_id": null,
"hgvs_c": "n.493G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000446716.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000309937",
"hgnc_id": null,
"hgvs_c": "n.295-269C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000846045.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.0702,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02219751477241516,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001077198.3",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361242.9",
"protein_coding": true,
"protein_id": "NP_001070666.1",
"strand": false,
"transcript": "NM_001077198.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000361242.9",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077198.3",
"protein_coding": true,
"protein_id": "ENSP00000355173.4",
"strand": false,
"transcript": "ENST00000361242.9",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3799,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000396761.6",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379983.2",
"strand": false,
"transcript": "ENST00000396761.6",
"transcript_support_level": 1
},
{
"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": 3701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409033.7",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "n.*602G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386482.3",
"strand": false,
"transcript": "ENST00000409033.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000446716.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284820",
"hgvs_c": "n.493G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000398528.1",
"strand": false,
"transcript": "ENST00000446716.5",
"transcript_support_level": 2
},
{
"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": 3701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409033.7",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "n.*602G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386482.3",
"strand": false,
"transcript": "ENST00000409033.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 867,
"aa_ref": "A",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000915618.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2332G>A",
"hgvs_p": "p.Ala778Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585677.1",
"strand": false,
"transcript": "ENST00000915618.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 863,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000944423.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614482.1",
"strand": false,
"transcript": "ENST00000944423.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 841,
"aa_ref": "A",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000901776.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Ala752Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571835.1",
"strand": false,
"transcript": "ENST00000901776.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 841,
"aa_ref": "A",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000915620.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Ala752Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585679.1",
"strand": false,
"transcript": "ENST00000915620.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_024085.5",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076990.4",
"strand": false,
"transcript": "NM_024085.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 2688,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409618.5",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386710.1",
"strand": false,
"transcript": "ENST00000409618.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3932,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000901769.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571828.1",
"strand": false,
"transcript": "ENST00000901769.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000901770.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571829.1",
"strand": false,
"transcript": "ENST00000901770.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000901772.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571831.1",
"strand": false,
"transcript": "ENST00000901772.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": 3857,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000901773.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571832.1",
"strand": false,
"transcript": "ENST00000901773.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4811,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000901777.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571836.1",
"strand": false,
"transcript": "ENST00000901777.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000901779.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571838.1",
"strand": false,
"transcript": "ENST00000901779.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000901780.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571839.1",
"strand": false,
"transcript": "ENST00000901780.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000901781.1",
"gene_hgnc_id": 22408,
"gene_symbol": "ATG9A",
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