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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: 2-15607269-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15607269&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DDX1",
"hgnc_id": 2734,
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_004939.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 975250,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.38999998569488525,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2223,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004939.3",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233084.8",
"protein_coding": true,
"protein_id": "NP_004930.1",
"strand": true,
"transcript": "NM_004939.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2223,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000233084.8",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004939.3",
"protein_coding": true,
"protein_id": "ENSP00000233084.3",
"strand": true,
"transcript": "ENST00000233084.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 648,
"aa_ref": "N",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1947,
"cds_start": 636,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000617198.5",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482416.2",
"strand": true,
"transcript": "ENST00000617198.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 2223,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000381341.7",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370745.1",
"strand": true,
"transcript": "ENST00000381341.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 2223,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000434671.2",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413767.2",
"strand": true,
"transcript": "ENST00000434671.2",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 966,
"cds_end": null,
"cds_length": 2223,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955719.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625778.1",
"strand": true,
"transcript": "ENST00000955719.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 739,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 2220,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000911867.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581926.1",
"strand": true,
"transcript": "ENST00000911867.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 738,
"aa_ref": "N",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 993,
"cds_end": null,
"cds_length": 2217,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955718.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Asn302Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625777.1",
"strand": true,
"transcript": "ENST00000955718.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 734,
"aa_ref": "N",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 998,
"cds_end": null,
"cds_length": 2205,
"cds_start": 894,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676916.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503949.1",
"strand": true,
"transcript": "ENST00000676916.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 729,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 978,
"cds_end": null,
"cds_length": 2190,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678137.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503001.1",
"strand": true,
"transcript": "ENST00000678137.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 725,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2178,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000904578.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574637.1",
"strand": true,
"transcript": "ENST00000904578.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "N",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 883,
"cds_end": null,
"cds_length": 2139,
"cds_start": 828,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000904579.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Asn276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574638.1",
"strand": true,
"transcript": "ENST00000904579.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 710,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 963,
"cds_end": null,
"cds_length": 2133,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955720.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625779.1",
"strand": true,
"transcript": "ENST00000955720.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "N",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 2094,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676937.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Asn261Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503720.1",
"strand": true,
"transcript": "ENST00000676937.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "N",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 959,
"cds_end": null,
"cds_length": 2094,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678594.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.Asn261Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502982.1",
"strand": true,
"transcript": "ENST00000678594.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 691,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 967,
"cds_end": null,
"cds_length": 2076,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000904580.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574639.1",
"strand": true,
"transcript": "ENST00000904580.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 677,
"aa_ref": "N",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 2034,
"cds_start": 912,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678786.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Asn304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502926.1",
"strand": true,
"transcript": "ENST00000678786.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 636,
"aa_ref": "N",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1911,
"cds_start": 600,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000621973.2",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.600C>T",
"hgvs_p": "p.Asn200Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484958.2",
"strand": true,
"transcript": "ENST00000621973.2",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1830,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000904581.1",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "c.519C>T",
"hgvs_p": "p.Asn173Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574640.1",
"strand": true,
"transcript": "ENST00000904581.1",
"transcript_support_level": null
},
{
"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": 3354,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000459706.2",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "n.978C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000459706.2",
"transcript_support_level": 3
},
{
"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": 5418,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000470674.2",
"gene_hgnc_id": 2734,
"gene_symbol": "DDX1",
"hgvs_c": "n.977C>T",
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