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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: 19-12896209-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12896209&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GCDH",
"hgnc_id": 4189,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000159.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_score": 11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5238,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " type 1,Glutaric aciduria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9781185388565063,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1317,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000159.4",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000222214.10",
"protein_coding": true,
"protein_id": "NP_000150.1",
"strand": true,
"transcript": "NM_000159.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1317,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000222214.10",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000159.4",
"protein_coding": true,
"protein_id": "ENSP00000222214.4",
"strand": true,
"transcript": "ENST00000222214.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1317,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000591470.5",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466845.1",
"strand": true,
"transcript": "ENST00000591470.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1569,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714069.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519360.1",
"strand": true,
"transcript": "ENST00000714069.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1443,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714068.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519359.1",
"strand": true,
"transcript": "ENST00000714068.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1437,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940009.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Thr254Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610068.1",
"strand": true,
"transcript": "ENST00000940009.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 454,
"aa_ref": "T",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1365,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000587072.2",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468584.2",
"strand": true,
"transcript": "ENST00000587072.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 446,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1341,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000591050.2",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467735.2",
"strand": true,
"transcript": "ENST00000591050.2",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 442,
"aa_ref": "T",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1329,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909380.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Thr218Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579439.1",
"strand": true,
"transcript": "ENST00000909380.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 441,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1326,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714067.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519358.1",
"strand": true,
"transcript": "ENST00000714067.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 439,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1320,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714070.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519361.1",
"strand": true,
"transcript": "ENST00000714070.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1317,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909379.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579438.1",
"strand": true,
"transcript": "ENST00000909379.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 436,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1311,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909381.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.634A>G",
"hgvs_p": "p.Thr212Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579440.1",
"strand": true,
"transcript": "ENST00000909381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 436,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1311,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909385.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.634A>G",
"hgvs_p": "p.Thr212Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579444.1",
"strand": true,
"transcript": "ENST00000909385.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 433,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1302,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000590472.6",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468625.3",
"strand": true,
"transcript": "ENST00000590472.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 429,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1290,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714075.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519366.1",
"strand": true,
"transcript": "ENST00000714075.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 428,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1287,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_013976.5",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_039663.1",
"strand": true,
"transcript": "NM_013976.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 428,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1287,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714073.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519364.1",
"strand": true,
"transcript": "ENST00000714073.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 426,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1281,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000588905.6",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.604A>G",
"hgvs_p": "p.Thr202Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465770.2",
"strand": true,
"transcript": "ENST00000588905.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 426,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1281,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909383.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.604A>G",
"hgvs_p": "p.Thr202Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579442.1",
"strand": true,
"transcript": "ENST00000909383.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 426,
"aa_ref": "T",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 658,
"cds_end": null,
"cds_length": 1281,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909387.1",
"gene_hgnc_id": 4189,
"gene_symbol": "GCDH",
"hgvs_c": "c.604A>G",
"hgvs_p": "p.Thr202Ala",
"intron_rank": null,
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