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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: 12-32740389-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32740389&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32740389,
"ref": "T",
"alt": "TC",
"effect": "intron_variant",
"transcript": "ENST00000549701.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1924-15dupC",
"hgvs_p": null,
"transcript": "NM_001278464.2",
"protein_id": "NP_001265393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "ENST00000553257.6",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1924-15dupC",
"hgvs_p": null,
"transcript": "ENST00000553257.6",
"protein_id": "ENSP00000449089.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "NM_001278464.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1885-15dupC",
"hgvs_p": null,
"transcript": "NM_012062.5",
"protein_id": "NP_036192.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": "ENST00000549701.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1885-15dupC",
"hgvs_p": null,
"transcript": "ENST00000549701.6",
"protein_id": "ENSP00000450399.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": "NM_012062.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1891-15dupC",
"hgvs_p": null,
"transcript": "ENST00000381000.8",
"protein_id": "ENSP00000370388.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1852-15dupC",
"hgvs_p": null,
"transcript": "ENST00000547312.5",
"protein_id": "ENSP00000448610.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": -4,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1807-15dupC",
"hgvs_p": null,
"transcript": "ENST00000452533.6",
"protein_id": "ENSP00000415131.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1774-15dupC",
"hgvs_p": null,
"transcript": "ENST00000266481.10",
"protein_id": "ENSP00000266481.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": -4,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "n.241dupC",
"hgvs_p": null,
"transcript": "ENST00000553031.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1891-15dupC",
"hgvs_p": null,
"transcript": "NM_001278465.2",
"protein_id": "NP_001265394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1852-15dupC",
"hgvs_p": null,
"transcript": "NM_001278463.2",
"protein_id": "NP_001265392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 725,
"cds_start": -4,
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"cds_length": 2178,
"cdna_start": null,
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"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1834-15dupC",
"hgvs_p": null,
"transcript": "ENST00000551476.6",
"protein_id": "ENSP00000447845.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1813-15dupC",
"hgvs_p": null,
"transcript": "NM_001330380.2",
"protein_id": "NP_001317309.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1813-15dupC",
"hgvs_p": null,
"transcript": "ENST00000358214.9",
"protein_id": "ENSP00000350948.5",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1807-15dupC",
"hgvs_p": null,
"transcript": "NM_012063.4",
"protein_id": "NP_036193.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1774-15dupC",
"hgvs_p": null,
"transcript": "NM_005690.5",
"protein_id": "NP_005681.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1765-15dupC",
"hgvs_p": null,
"transcript": "ENST00000548750.6",
"protein_id": "ENSP00000447788.2",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1483-15dupC",
"hgvs_p": null,
"transcript": "ENST00000703369.1",
"protein_id": "ENSP00000515279.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 602,
"cds_start": -4,
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"cds_length": 1809,
"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1438-15dupC",
"hgvs_p": null,
"transcript": "ENST00000549926.6",
"protein_id": "ENSP00000515263.1",
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},
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1438-15dupC",
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"transcript": "ENST00000703338.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1405-15dupC",
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"transcript": "ENST00000703361.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1405-15dupC",
"hgvs_p": null,
"transcript": "ENST00000703370.1",
"protein_id": "ENSP00000515280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1360-15dupC",
"hgvs_p": null,
"transcript": "ENST00000703371.1",
"protein_id": "ENSP00000515281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
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"cdna_start": null,
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},
{
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],
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}
],
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.077,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000549701.6",
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],
"inheritance_mode": "AD,AR",
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},
{
"score": 2,
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"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000551673.5",
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}