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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: 2-15606232-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15606232&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 15606232,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004939.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "NM_004939.3",
"protein_id": "NP_004930.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 740,
"cds_start": 785,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233084.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004939.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000233084.8",
"protein_id": "ENSP00000233084.3",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 740,
"cds_start": 785,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004939.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233084.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Pro170Leu",
"transcript": "ENST00000617198.5",
"protein_id": "ENSP00000482416.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 648,
"cds_start": 509,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617198.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000381341.7",
"protein_id": "ENSP00000370745.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 740,
"cds_start": 785,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381341.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000434671.2",
"protein_id": "ENSP00000413767.2",
"transcript_support_level": 4,
"aa_start": 262,
"aa_end": null,
"aa_length": 740,
"cds_start": 785,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434671.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000955719.1",
"protein_id": "ENSP00000625778.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 740,
"cds_start": 785,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955719.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000911867.1",
"protein_id": "ENSP00000581926.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 739,
"cds_start": 785,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911867.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Pro260Leu",
"transcript": "ENST00000955718.1",
"protein_id": "ENSP00000625777.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 738,
"cds_start": 779,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955718.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Pro256Leu",
"transcript": "ENST00000676916.1",
"protein_id": "ENSP00000503949.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 734,
"cds_start": 767,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676916.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000678137.1",
"protein_id": "ENSP00000503001.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 729,
"cds_start": 785,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678137.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000904578.1",
"protein_id": "ENSP00000574637.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 725,
"cds_start": 785,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904578.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.701C>T",
"hgvs_p": "p.Pro234Leu",
"transcript": "ENST00000904579.1",
"protein_id": "ENSP00000574638.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 712,
"cds_start": 701,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904579.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000955720.1",
"protein_id": "ENSP00000625779.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 710,
"cds_start": 785,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955720.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Pro219Leu",
"transcript": "ENST00000676937.1",
"protein_id": "ENSP00000503720.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 697,
"cds_start": 656,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676937.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Pro219Leu",
"transcript": "ENST00000678594.1",
"protein_id": "ENSP00000502982.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 697,
"cds_start": 656,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678594.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000904580.1",
"protein_id": "ENSP00000574639.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 691,
"cds_start": 785,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904580.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000678786.1",
"protein_id": "ENSP00000502926.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 677,
"cds_start": 785,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678786.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Pro158Leu",
"transcript": "ENST00000621973.2",
"protein_id": "ENSP00000484958.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 636,
"cds_start": 473,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621973.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Pro131Leu",
"transcript": "ENST00000904581.1",
"protein_id": "ENSP00000574640.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 609,
"cds_start": 392,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "n.851C>T",
"hgvs_p": null,
"transcript": "ENST00000459706.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459706.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "n.850C>T",
"hgvs_p": null,
"transcript": "ENST00000470674.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470674.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "n.986C>T",
"hgvs_p": null,
"transcript": "ENST00000478695.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478695.2"
},
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004939.3",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}