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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: 16-70329381-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70329381&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DDX19B",
"hgnc_id": 2742,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Pro238Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001363938.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000260537",
"hgnc_id": null,
"hgvs_c": "c.160+14426C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000443119.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DDX19A-DT",
"hgnc_id": 55349,
"hgvs_c": "n.850+4439G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000562077.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.3572,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4500930607318878,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1440,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_007242.7",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Pro233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288071.11",
"protein_coding": true,
"protein_id": "NP_009173.1",
"strand": true,
"transcript": "NM_007242.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1440,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000288071.11",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Pro233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007242.7",
"protein_coding": true,
"protein_id": "ENSP00000288071.7",
"strand": true,
"transcript": "ENST00000288071.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "P",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1347,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000355992.7",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348271.3",
"strand": true,
"transcript": "ENST00000355992.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1113,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393657.6",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Pro124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377267.2",
"strand": true,
"transcript": "ENST00000393657.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1113,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000563392.5",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Pro124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456574.1",
"strand": true,
"transcript": "ENST00000563392.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443119.7",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260537",
"hgvs_c": "c.160+14426C>T",
"hgvs_p": null,
"intron_rank": 3,
"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": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000562077.5",
"gene_hgnc_id": 55349,
"gene_symbol": "DDX19A-DT",
"hgvs_c": "n.850+4439G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000562077.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1455,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363938.1",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Pro238Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350867.1",
"strand": true,
"transcript": "NM_001363938.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1455,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000563206.5",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Pro238Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455813.1",
"strand": true,
"transcript": "ENST00000563206.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1455,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000872522.1",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Pro233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542581.1",
"strand": true,
"transcript": "ENST00000872522.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1440,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000912196.1",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Pro233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582255.1",
"strand": true,
"transcript": "ENST00000912196.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 479,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1440,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000912197.1",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Pro233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582256.1",
"strand": true,
"transcript": "ENST00000912197.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1362,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001257172.2",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Pro207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244101.1",
"strand": true,
"transcript": "NM_001257172.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1362,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000451014.7",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Pro207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392639.3",
"strand": true,
"transcript": "ENST00000451014.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "P",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3290,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1347,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001014451.3",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Pro202Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014451.1",
"strand": true,
"transcript": "NM_001014451.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 430,
"aa_ref": "P",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1293,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872520.1",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Pro184Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542579.1",
"strand": true,
"transcript": "ENST00000872520.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1281,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000872521.1",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Pro233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542580.1",
"strand": true,
"transcript": "ENST00000872521.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1113,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001014449.3",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Pro124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014449.1",
"strand": true,
"transcript": "NM_001014449.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1113,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001257173.2",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Pro124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244102.1",
"strand": true,
"transcript": "NM_001257173.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3220,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1113,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001257174.2",
"gene_hgnc_id": 2742,
"gene_symbol": "DDX19B",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Pro124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244103.1",
"strand": true,
"transcript": "NM_001257174.2",
"transcript_support_level": null
},
{
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