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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: 20-58909553-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58909553&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"hgvs_c": "c.2621G>A",
"hgvs_p": "p.Arg874His",
"inheritance_mode": "AD,Mitochondrial,Unknown",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_080425.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9994,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"chr": "20",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "GNAS-related disorder,Pseudohypoparathyroidism,Pseudohypoparathyroidism type I A,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9774197340011597,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "R",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2621,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_080425.4",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2621G>A",
"hgvs_p": "p.Arg874His",
"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": "H",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "R",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2621,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000371100.9",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2621G>A",
"hgvs_p": "p.Arg874His",
"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": "H",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1185,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000516.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"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": "H",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1185,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000371085.8",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231His",
"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": "H",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "R",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4032,
"cdna_start": 3176,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000676826.2",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2624G>A",
"hgvs_p": "p.Arg875His",
"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": "H",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "R",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 3072,
"cds_start": 2579,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371102.8",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2579G>A",
"hgvs_p": "p.Arg860His",
"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": "H",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1188,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000354359.12",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"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": "H",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1143,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371095.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"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": "H",
"aa_end": null,
"aa_length": 379,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1140,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000265620.11",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.647G>A",
"hgvs_p": "p.Arg216His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000470512.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000480232.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1011,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000663479.2",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"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": "H",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1008,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000477931.5",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172His",
"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": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 769,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000462499.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"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": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 633,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000467227.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"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": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 705,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000478585.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"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": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 561,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000481039.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499767.2",
"strand": true,
"transcript": "ENST00000481039.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 937,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000485673.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499334.2",
"strand": true,
"transcript": "ENST00000485673.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 321,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 551,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488546.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499332.2",
"strand": true,
"transcript": "ENST00000488546.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": 643,
"cds_end": null,
"cds_length": 966,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000492907.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499443.2",
"strand": true,
"transcript": "ENST00000492907.6",
"transcript_support_level": 3
},
{
"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": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_016592.5",
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}