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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: 20-58903791-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58903791&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Pro787Pro",
"inheritance_mode": "AD,Mitochondrial,Unknown",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_080425.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2508,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "20",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "8 conditions,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_016592.5",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.*338C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000371075.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057676.1",
"strand": true,
"transcript": "NM_016592.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000371075.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.*338C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_016592.5",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360115.3",
"strand": true,
"transcript": "ENST00000371075.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000313949.11",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.*335C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323571.7",
"strand": true,
"transcript": "ENST00000313949.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000453292.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.*293C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392000.2",
"strand": true,
"transcript": "ENST00000453292.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "P",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2361,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_080425.4",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Pro787Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000371100.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_536350.2",
"strand": true,
"transcript": "NM_080425.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "P",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2361,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000371100.9",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Pro787Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_080425.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360141.3",
"strand": true,
"transcript": "ENST00000371100.9",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1185,
"cds_start": 432,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000516.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.Pro144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371085.8",
"protein_coding": true,
"protein_id": "NP_000507.1",
"strand": true,
"transcript": "NM_000516.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1185,
"cds_start": 432,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000371085.8",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.432C>T",
"hgvs_p": "p.Pro144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000516.7",
"protein_coding": true,
"protein_id": "ENSP00000360126.3",
"strand": true,
"transcript": "ENST00000371085.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4032,
"cdna_start": 2916,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2364,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676826.2",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Pro788Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504675.2",
"strand": true,
"transcript": "ENST00000676826.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "P",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 3072,
"cds_start": 2319,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000371102.8",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Pro773Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360143.4",
"strand": true,
"transcript": "ENST00000371102.8",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1188,
"cds_start": 435,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000354359.12",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Pro145Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346328.7",
"strand": true,
"transcript": "ENST00000354359.12",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 380,
"aa_ref": "P",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1143,
"cds_start": 390,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000371095.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Pro130Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360136.3",
"strand": true,
"transcript": "ENST00000371095.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 379,
"aa_ref": "P",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1140,
"cds_start": 387,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000265620.11",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Pro129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265620.7",
"strand": true,
"transcript": "ENST00000265620.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1011,
"cds_start": 258,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000470512.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Pro86Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499552.2",
"strand": true,
"transcript": "ENST00000470512.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1011,
"cds_start": 258,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000480232.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Pro86Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499545.2",
"strand": true,
"transcript": "ENST00000480232.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1011,
"cds_start": 258,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000663479.2",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Pro86Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499353.2",
"strand": true,
"transcript": "ENST00000663479.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1008,
"cds_start": 255,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000477931.5",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.255C>T",
"hgvs_p": "p.Pro85Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499660.1",
"strand": true,
"transcript": "ENST00000477931.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 509,
"cds_end": null,
"cds_length": 966,
"cds_start": 213,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000462499.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Pro71Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499758.2",
"strand": true,
"transcript": "ENST00000462499.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 373,
"cds_end": null,
"cds_length": 966,
"cds_start": 213,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000467227.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Pro71Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499681.2",
"strand": true,
"transcript": "ENST00000467227.6",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 445,
"cds_end": null,
"cds_length": 966,
"cds_start": 213,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478585.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Pro71Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499762.2",
"strand": true,
"transcript": "ENST00000478585.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 71,
"biotype": "protein_coding",
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