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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: 16-70361494-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70361494&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DDX19A",
"hgnc_id": 25628,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_018332.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000260537",
"hgnc_id": null,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Met125Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000443119.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285710",
"hgnc_id": null,
"hgvs_c": "n.680+4577T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000650629.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.1778,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43086379766464233,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 478,
"aa_ref": "M",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1437,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_018332.5",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302243.12",
"protein_coding": true,
"protein_id": "NP_060802.1",
"strand": true,
"transcript": "NM_018332.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 478,
"aa_ref": "M",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1437,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000302243.12",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018332.5",
"protein_coding": true,
"protein_id": "ENSP00000306117.7",
"strand": true,
"transcript": "ENST00000302243.12",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 479,
"aa_ref": "M",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1440,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000443119.7",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260537",
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Met125Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399208.3",
"strand": true,
"transcript": "ENST00000443119.7",
"transcript_support_level": 5
},
{
"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": 1643,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000569319.5",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "n.234A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456765.1",
"strand": true,
"transcript": "ENST00000569319.5",
"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": 3067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000569771.5",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "n.370A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457103.1",
"strand": true,
"transcript": "ENST00000569771.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567012.5",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "n.354-3523A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567012.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 506,
"aa_ref": "M",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 474,
"cds_end": null,
"cds_length": 1521,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950912.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620971.1",
"strand": true,
"transcript": "ENST00000950912.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 489,
"aa_ref": "M",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1470,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921896.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.403A>G",
"hgvs_p": "p.Met135Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591955.1",
"strand": true,
"transcript": "ENST00000921896.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 473,
"aa_ref": "M",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1422,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000879410.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Met119Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549469.1",
"strand": true,
"transcript": "ENST00000879410.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 461,
"aa_ref": "M",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1386,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950913.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Met107Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620972.1",
"strand": true,
"transcript": "ENST00000950913.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 443,
"aa_ref": "M",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1332,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000921895.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.265A>G",
"hgvs_p": "p.Met89Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591954.1",
"strand": true,
"transcript": "ENST00000921895.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 395,
"aa_ref": "M",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 123,
"cds_end": null,
"cds_length": 1188,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000575878.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.121A>G",
"hgvs_p": "p.Met41Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460180.1",
"strand": true,
"transcript": "ENST00000575878.1",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 388,
"aa_ref": "M",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1167,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320525.2",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Met34Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307454.1",
"strand": true,
"transcript": "NM_001320525.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 346,
"aa_ref": "M",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1041,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921894.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591953.1",
"strand": true,
"transcript": "ENST00000921894.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "M",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 489,
"cds_end": null,
"cds_length": 906,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950914.1",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620973.1",
"strand": true,
"transcript": "ENST00000950914.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320526.2",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.-207A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307455.1",
"strand": true,
"transcript": "NM_001320526.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320527.2",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.-314A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307456.1",
"strand": true,
"transcript": "NM_001320527.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320522.2",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.294-3049A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307451.1",
"strand": true,
"transcript": "NM_001320522.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417604.6",
"gene_hgnc_id": 25628,
"gene_symbol": "DDX19A",
"hgvs_c": "c.294-3049A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410243.2",
"strand": true,
"transcript": "ENST00000417604.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 260,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": null,
"cds_end": null,
"cds_length": 783,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567706.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260537",
"hgvs_c": "c.608-4591A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454699.1",
"strand": true,
"transcript": "ENST00000567706.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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}