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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: 22-17181552-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17181552&ref=C&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": "ADA2",
"hgnc_id": 1839,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001282225.2",
"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": 0.1642,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25089341402053833,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282225.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399837.8",
"protein_coding": true,
"protein_id": "NP_001269154.1",
"strand": false,
"transcript": "NM_001282225.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000399837.8",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001282225.2",
"protein_coding": true,
"protein_id": "ENSP00000382731.2",
"strand": false,
"transcript": "ENST00000399837.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000262607.3",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262607.2",
"strand": false,
"transcript": "ENST00000262607.3",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 550,
"aa_ref": "E",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000885359.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1584G>T",
"hgvs_p": "p.Glu528Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555418.1",
"strand": false,
"transcript": "ENST00000885359.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4322,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282226.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269155.1",
"strand": false,
"transcript": "NM_001282226.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000399839.5",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382733.1",
"strand": false,
"transcript": "ENST00000399839.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000543038.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442482.2",
"strand": false,
"transcript": "ENST00000543038.2",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000649310.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496839.2",
"strand": false,
"transcript": "ENST00000649310.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 2571,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000649746.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497913.2",
"strand": false,
"transcript": "ENST00000649746.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696196.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512479.1",
"strand": false,
"transcript": "ENST00000696196.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5353,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000696197.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512480.1",
"strand": false,
"transcript": "ENST00000696197.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000696225.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512491.1",
"strand": false,
"transcript": "ENST00000696225.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1467,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000885358.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Glu489Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555417.1",
"strand": false,
"transcript": "ENST00000885358.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4272,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282227.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269156.1",
"strand": false,
"transcript": "NM_001282227.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282228.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269157.1",
"strand": false,
"transcript": "NM_001282228.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000449907.8",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406443.2",
"strand": false,
"transcript": "ENST00000449907.8",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000649540.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1341G>T",
"hgvs_p": "p.Glu447Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497469.1",
"strand": false,
"transcript": "ENST00000649540.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 391,
"aa_ref": "E",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1107,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001282229.2",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1107G>T",
"hgvs_p": "p.Glu369Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269158.1",
"strand": false,
"transcript": "NM_001282229.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 391,
"aa_ref": "E",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1107,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000610390.5",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.1107G>T",
"hgvs_p": "p.Glu369Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483418.1",
"strand": false,
"transcript": "ENST00000610390.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1080,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000696222.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.714G>T",
"hgvs_p": "p.Glu238Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512488.1",
"strand": false,
"transcript": "ENST00000696222.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 309,
"aa_ref": "E",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 930,
"cds_start": 861,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696224.1",
"gene_hgnc_id": 1839,
"gene_symbol": "ADA2",
"hgvs_c": "c.861G>T",
"hgvs_p": "p.Glu287Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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