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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: 2-121530932-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=121530932&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 121530932,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001395891.1",
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "NM_001395891.1",
"protein_id": "NP_001382820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": null,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696935.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395891.1"
},
{
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000696935.1",
"protein_id": "ENSP00000512981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": null,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395891.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696935.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU4ATAC",
"gene_hgnc_id": 34016,
"hgvs_c": "n.53C>G",
"hgvs_p": null,
"transcript": "ENST00000580972.2",
"protein_id": null,
"transcript_support_level": 6,
"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": "NR_023343.3",
"mane_plus": null,
"biotype": "snRNA",
"feature": "ENST00000580972.2"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU4ATAC",
"gene_hgnc_id": 34016,
"hgvs_c": "n.53C>G",
"hgvs_p": null,
"transcript": "NR_023343.3",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000580972.2",
"mane_plus": null,
"biotype": "snRNA",
"feature": "NR_023343.3"
},
{
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "NM_015282.3",
"protein_id": "NP_056097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1538,
"cds_start": null,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015282.3"
},
{
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000263710.8",
"protein_id": "ENSP00000263710.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1538,
"cds_start": null,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263710.8"
},
{
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961911.1",
"protein_id": "ENSP00000631970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1519,
"cds_start": null,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961911.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961907.1",
"protein_id": "ENSP00000631966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": null,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961907.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961936.1",
"protein_id": "ENSP00000631995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": null,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961936.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "NM_001378003.1",
"protein_id": "NP_001364932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1506,
"cds_start": null,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378003.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961923.1",
"protein_id": "ENSP00000631982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1504,
"cds_start": null,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961923.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961917.1",
"protein_id": "ENSP00000631976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961917.1"
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961925.1",
"protein_id": "ENSP00000631984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961925.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961930.1",
"protein_id": "ENSP00000631989.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961930.1"
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000877408.1",
"protein_id": "ENSP00000547467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"cds_start": null,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877408.1"
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961920.1",
"protein_id": "ENSP00000631979.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961920.1"
},
{
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961932.1",
"protein_id": "ENSP00000631991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1494,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961932.1"
},
{
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961928.1",
"protein_id": "ENSP00000631987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1487,
"cds_start": null,
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"cds_length": 4464,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961928.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961919.1",
"protein_id": "ENSP00000631978.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961919.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961910.1",
"protein_id": "ENSP00000631969.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961910.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961926.1",
"protein_id": "ENSP00000631985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1485,
"cds_start": null,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961926.1"
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-607G>C",
"hgvs_p": null,
"transcript": "ENST00000961915.1",
"protein_id": "ENSP00000631974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": null,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961915.1"
},
{
"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": 38,
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"BS2_Supporting"
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"verdict": "Likely_pathogenic",
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{
"score": 9,
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"verdict": "Likely_pathogenic",
"transcript": "NR_023343.3",
"gene_symbol": "RNU4ATAC",
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{
"score": 9,
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"gene_symbol": "CLASP1-AS1",
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"inheritance_mode": "",
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],
"clinvar_disease": " type 1,Osteodysplastic primordial dwarfism,RNU4ATAC spectrum disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Osteodysplastic primordial dwarfism, type 1|not provided|RNU4ATAC spectrum disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}