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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: 17-43528880-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43528880&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43528880,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001322219.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "NM_001079675.5",
"protein_id": "NP_001073143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": "ENST00000319349.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079675.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "ENST00000319349.10",
"protein_id": "ENSP00000321835.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": "NM_001079675.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319349.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "ENST00000393664.6",
"protein_id": "ENSP00000377273.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393664.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "ENST00000591713.5",
"protein_id": "ENSP00000465718.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591713.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.400-137A>G",
"hgvs_p": null,
"transcript": "ENST00000586826.1",
"protein_id": "ENSP00000468636.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586826.1"
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.3443+6654T>C",
"hgvs_p": null,
"transcript": "NM_001322219.2",
"protein_id": "NP_001309148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322219.2"
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.3443+6654T>C",
"hgvs_p": null,
"transcript": "ENST00000589898.2",
"protein_id": "ENSP00000466900.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": null,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589898.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "NM_001369366.2",
"protein_id": "NP_001356295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369366.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "NM_001986.4",
"protein_id": "NP_001977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001986.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "ENST00000857844.1",
"protein_id": "ENSP00000527903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1231-137A>G",
"hgvs_p": null,
"transcript": "ENST00000922775.1",
"protein_id": "ENSP00000592834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922775.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1228-137A>G",
"hgvs_p": null,
"transcript": "NM_001369367.2",
"protein_id": "NP_001356296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369367.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1216-137A>G",
"hgvs_p": null,
"transcript": "NM_001369368.2",
"protein_id": "NP_001356297.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 479,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369368.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
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"hgvs_c": "c.1216-137A>G",
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"transcript": "ENST00000857843.1",
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"feature": "ENST00000857843.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1216-137A>G",
"hgvs_p": null,
"transcript": "ENST00000922774.1",
"protein_id": "ENSP00000592833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000922774.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1171-137A>G",
"hgvs_p": null,
"transcript": "ENST00000922776.1",
"protein_id": "ENSP00000592835.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000922776.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1156-137A>G",
"hgvs_p": null,
"transcript": "ENST00000922777.1",
"protein_id": "ENSP00000592836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000922777.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1114-137A>G",
"hgvs_p": null,
"transcript": "NM_001261437.3",
"protein_id": "NP_001248366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001261437.3"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1114-137A>G",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1114-137A>G",
"hgvs_p": null,
"transcript": "ENST00000538265.5",
"protein_id": "ENSP00000443846.1",
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"feature": "ENST00000538265.5"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ETV4",
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"hgvs_c": "c.1114-137A>G",
"hgvs_p": null,
"transcript": "ENST00000545954.5",
"protein_id": "ENSP00000440023.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545954.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1069-137A>G",
"hgvs_p": null,
"transcript": "ENST00000545089.5",
"protein_id": "ENSP00000441749.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545089.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"splice_prediction_selected": "Benign",
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{
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"BA1"
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"verdict": "Benign",
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{
"score": -14,
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"BA1"
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"transcript": "NM_001986.4",
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"inheritance_mode": "",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}