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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: 2-29025131-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=29025131&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 29025131,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_199280.4",
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "NM_199280.4",
"protein_id": "NP_954974.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": null,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379558.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199280.4"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "ENST00000379558.5",
"protein_id": "ENSP00000368876.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": null,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199280.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379558.5"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "ENST00000956354.1",
"protein_id": "ENSP00000626413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": null,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956354.1"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "ENST00000929817.1",
"protein_id": "ENSP00000599876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": null,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929817.1"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1733+757T>G",
"hgvs_p": null,
"transcript": "ENST00000864356.1",
"protein_id": "ENSP00000534415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": null,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864356.1"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1688+757T>G",
"hgvs_p": null,
"transcript": "NM_001321538.3",
"protein_id": "NP_001308467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": null,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321538.3"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1688+757T>G",
"hgvs_p": null,
"transcript": "ENST00000864354.1",
"protein_id": "ENSP00000534413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": null,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864354.1"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1688+757T>G",
"hgvs_p": null,
"transcript": "ENST00000956355.1",
"protein_id": "ENSP00000626414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": null,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956355.1"
},
{
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1280+757T>G",
"hgvs_p": null,
"transcript": "NM_001321539.3",
"protein_id": "NP_001308468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321539.3"
},
{
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1280+757T>G",
"hgvs_p": null,
"transcript": "ENST00000864355.1",
"protein_id": "ENSP00000534414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864355.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.158+757T>G",
"hgvs_p": null,
"transcript": "ENST00000401723.5",
"protein_id": "ENSP00000384897.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401723.5"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "XM_047443566.1",
"protein_id": "XP_047299522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1031,
"cds_start": null,
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"cds_length": 3096,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443566.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "XM_047443567.1",
"protein_id": "XP_047299523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1031,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443567.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "XM_047443568.1",
"protein_id": "XP_047299524.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047443568.1"
},
{
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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": 12,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1688+757T>G",
"hgvs_p": null,
"transcript": "XM_047443569.1",
"protein_id": "XP_047299525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 976,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443569.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1430+713T>G",
"hgvs_p": null,
"transcript": "XM_047443570.1",
"protein_id": "XP_047299526.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047443570.1"
},
{
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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": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "XM_047443572.1",
"protein_id": "XP_047299528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": null,
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"cds_length": 2604,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443572.1"
},
{
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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": 12,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1331+757T>G",
"hgvs_p": null,
"transcript": "XM_047443573.1",
"protein_id": "XP_047299529.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443573.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1316+757T>G",
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"transcript": "XM_047443574.1",
"protein_id": "XP_047299530.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047443574.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.1853+757T>G",
"hgvs_p": null,
"transcript": "XM_011532628.3",
"protein_id": "XP_011530930.1",
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"biotype": "protein_coding",
"feature": "XM_011532628.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.839+757T>G",
"hgvs_p": null,
"transcript": "XM_047443575.1",
"protein_id": "XP_047299531.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 693,
"cds_start": null,
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"cds_length": 2082,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443575.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TOGARAM2",
"gene_hgnc_id": 33715,
"hgvs_c": "c.*43+713T>G",
"hgvs_p": null,
"transcript": "XM_047443576.1",
"protein_id": "XP_047299532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Benign",
"transcript": "NM_199280.4",
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"effects": [
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}