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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: 6-138925939-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138925939&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138925939,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000450536.7",
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1338+462A>G",
"hgvs_p": null,
"transcript": "NM_001286611.2",
"protein_id": "NP_001273540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": -4,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": "ENST00000450536.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1338+462A>G",
"hgvs_p": null,
"transcript": "ENST00000450536.7",
"protein_id": "ENSP00000392065.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": -4,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": "NM_001286611.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1338+462A>G",
"hgvs_p": null,
"transcript": "ENST00000258062.9",
"protein_id": "ENSP00000258062.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1257+4038A>G",
"hgvs_p": null,
"transcript": "ENST00000409812.6",
"protein_id": "ENSP00000386699.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1338+462A>G",
"hgvs_p": null,
"transcript": "NM_031922.5",
"protein_id": "NP_114128.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1257+4038A>G",
"hgvs_p": null,
"transcript": "NM_001128617.3",
"protein_id": "NP_001122089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4452,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1257+4038A>G",
"hgvs_p": null,
"transcript": "ENST00000367663.8",
"protein_id": "ENSP00000356635.4",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1215+4038A>G",
"hgvs_p": null,
"transcript": "ENST00000529597.5",
"protein_id": "ENSP00000434251.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "REPS1",
"gene_hgnc_id": 15578,
"hgvs_c": "c.1257+4038A>G",
"hgvs_p": null,
"transcript": "ENST00000415951.6",
"protein_id": "ENSP00000397941.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
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"cds_length": 2214,
"cdna_start": null,
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},
{
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],
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"gene_symbol": "REPS1",
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"hgvs_c": "c.1257+4038A>G",
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"transcript": "NM_001286612.2",
"protein_id": "NP_001273541.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "REPS1",
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"hgvs_c": "c.*323+462A>G",
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"transcript": "ENST00000626459.2",
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},
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],
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],
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},
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],
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},
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"transcript": "XM_017011387.3",
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],
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],
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