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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: 17-42017395-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42017395&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "NKIRAS2",
"hgnc_id": 17898,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000307641.9",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAJC7",
"hgnc_id": 12392,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003315.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.3003,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34169143438339233,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": null,
"cds_end": null,
"cds_length": 576,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000307641.9",
"gene_hgnc_id": 17898,
"gene_symbol": "NKIRAS2",
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303580.5",
"strand": true,
"transcript": "ENST00000307641.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 494,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 45,
"cds_end": null,
"cds_length": 1485,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_003315.4",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000457167.9",
"protein_coding": true,
"protein_id": "NP_003306.3",
"strand": false,
"transcript": "NM_003315.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 494,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 45,
"cds_end": null,
"cds_length": 1485,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000457167.9",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003315.4",
"protein_coding": true,
"protein_id": "ENSP00000406463.2",
"strand": false,
"transcript": "ENST00000457167.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 438,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": null,
"cds_end": null,
"cds_length": 1317,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000316603.12",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.-58G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313311.7",
"strand": false,
"transcript": "ENST00000316603.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": null,
"cds_end": null,
"cds_length": 576,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000307641.9",
"gene_hgnc_id": 17898,
"gene_symbol": "NKIRAS2",
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303580.5",
"strand": true,
"transcript": "ENST00000307641.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 497,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 37,
"cds_end": null,
"cds_length": 1494,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674233.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501456.1",
"strand": false,
"transcript": "ENST00000674233.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 37,
"cds_end": null,
"cds_length": 1482,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000904031.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574090.1",
"strand": false,
"transcript": "ENST00000904031.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 469,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 156,
"cds_end": null,
"cds_length": 1410,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000904029.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574088.1",
"strand": false,
"transcript": "ENST00000904029.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 456,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 49,
"cds_end": null,
"cds_length": 1371,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674306.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501356.1",
"strand": false,
"transcript": "ENST00000674306.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 446,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 39,
"cds_end": null,
"cds_length": 1341,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000968335.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638394.1",
"strand": false,
"transcript": "ENST00000968335.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 445,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 41,
"cds_end": null,
"cds_length": 1338,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000904030.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574089.1",
"strand": false,
"transcript": "ENST00000904030.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 347,
"aa_ref": "D",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 33,
"cds_end": null,
"cds_length": 1044,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674175.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Asp8Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501429.1",
"strand": false,
"transcript": "ENST00000674175.1",
"transcript_support_level": null
},
{
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"aa_length": 438,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": null,
"cds_end": null,
"cds_length": 1317,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011525167.4",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.-346G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523469.1",
"strand": false,
"transcript": "XM_011525167.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674214.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.38+1043G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501531.1",
"strand": false,
"transcript": "ENST00000674214.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 438,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": null,
"cds_end": null,
"cds_length": 1317,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674303.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.-92+280G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501468.1",
"strand": false,
"transcript": "ENST00000674303.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": null,
"cds_end": null,
"cds_length": 802,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590348.6",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.17+3928G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464756.2",
"strand": false,
"transcript": "ENST00000590348.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 678,
"cdna_start": null,
"cds_end": null,
"cds_length": 307,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589773.5",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.-291+1043G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465228.1",
"strand": false,
"transcript": "ENST00000589773.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": 222,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591787.1",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "c.-291+3928G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465140.1",
"strand": false,
"transcript": "ENST00000591787.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 45,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": 140,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585955.5",
"gene_hgnc_id": 17898,
"gene_symbol": "NKIRAS2",
"hgvs_c": "c.-14-4169C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468081.1",
"strand": true,
"transcript": "ENST00000585955.5",
"transcript_support_level": 4
},
{
"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": 1782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000585693.2",
"gene_hgnc_id": 12392,
"gene_symbol": "DNAJC7",
"hgvs_c": "n.44G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585693.2",
"transcript_support_level": 2
},
{
"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": 1909,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000585866.6",
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